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Showing 25 to 36 of 97 entries
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Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.

Kidney international

Ponte B, Sadler MC, Olinger E, Vollenweider P, Bochud M, Padmanabhan S, Hayward C, Kutalik Z, Devuyst O.
PMID: 34634361
Kidney Int. 2021 Dec;100(6):1282-1291. doi: 10.1016/j.kint.2021.08.032. Epub 2021 Oct 09.

UMOD variants associated with higher levels of urinary uromodulin (uUMOD) increase the risk of chronic kidney disease (CKD) and hypertension. However, uUMOD levels also reflect functional kidney tubular mass in observational studies, questioning the causal link between uromodulin production...

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Ponte B, Sadler MC, Olinger E, et al. Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease. Kidney Int. 2021;100(6):1282-1291doi: 10.1016/j.kint.2021.08.032.
Ponte, B., Sadler, M. C., Olinger, E., Vollenweider, P., Bochud, M., Padmanabhan, S., Hayward, C., Kutalik, Z., & Devuyst, O. (2021). Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease. Kidney international, 100(6), 1282-1291. https://doi.org/10.1016/j.kint.2021.08.032
Ponte, Belen, et al. "Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease." Kidney international vol. 100,6 (2021): 1282-1291. doi: https://doi.org/10.1016/j.kint.2021.08.032
Ponte B, Sadler MC, Olinger E, Vollenweider P, Bochud M, Padmanabhan S, Hayward C, Kutalik Z, Devuyst O. Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease. Kidney Int. 2021 Dec;100(6):1282-1291. doi: 10.1016/j.kint.2021.08.032. Epub 2021 Oct 09. PMID: 34634361.
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Narrative reconstruction therapy for prolonged grief disorder - a pilot study.

European journal of psychotraumatology

Elinger G, Hasson-Ohayon I, Barkalifa E, Boelen PA, Peri T.
PMID: 33968326
Eur J Psychotraumatol. 2021 Mar 30;12(1):1896126. doi: 10.1080/20008198.2021.1896126.

No abstract available.

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Elinger G, Hasson-Ohayon I, Barkalifa E, et al. Narrative reconstruction therapy for prolonged grief disorder - a pilot study. Eur J Psychotraumatol. 2021;12(1):1896126doi: 10.1080/20008198.2021.1896126.
Elinger, G., Hasson-Ohayon, I., Barkalifa, E., Boelen, P. A., & Peri, T. (2021). Narrative reconstruction therapy for prolonged grief disorder - a pilot study. European journal of psychotraumatology, 12(1), 1896126. https://doi.org/10.1080/20008198.2021.1896126
Elinger, Gali, et al. "Narrative reconstruction therapy for prolonged grief disorder - a pilot study." European journal of psychotraumatology vol. 12,1 (2021): 1896126. doi: https://doi.org/10.1080/20008198.2021.1896126
Elinger G, Hasson-Ohayon I, Barkalifa E, Boelen PA, Peri T. Narrative reconstruction therapy for prolonged grief disorder - a pilot study. Eur J Psychotraumatol. 2021 Mar 30;12(1):1896126. doi: 10.1080/20008198.2021.1896126. PMID: 33968326; PMCID: PMC8075085.
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Molecular genetics of renal ciliopathies.

Biochemical Society transactions

Barroso-Gil M, Olinger E, Sayer JA.
PMID: 33960378
Biochem Soc Trans. 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791.

Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined...

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Barroso-Gil M, Olinger E, Sayer JA. Molecular genetics of renal ciliopathies. Biochem Soc Trans. 2021;49(3):1205-1220doi: 10.1042/BST20200791.
Barroso-Gil, M., Olinger, E., & Sayer, J. A. (2021). Molecular genetics of renal ciliopathies. Biochemical Society transactions, 49(3), 1205-1220. https://doi.org/10.1042/BST20200791
Barroso-Gil, Miguel, et al. "Molecular genetics of renal ciliopathies." Biochemical Society transactions vol. 49,3 (2021): 1205-1220. doi: https://doi.org/10.1042/BST20200791
Barroso-Gil M, Olinger E, Sayer JA. Molecular genetics of renal ciliopathies. Biochem Soc Trans. 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791. PMID: 33960378.
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Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation.

Epilepsy & behavior reports

Marawar R, Klinger N, Tarbox-Berry SI, Mittal S, Shah AK.
PMID: 33437958
Epilepsy Behav Rep. 2020 Nov 13;15:100403. doi: 10.1016/j.ebr.2020.100403. eCollection 2021.

Prior studies have used functional neuroimaging to demonstrate that the organization of the autistic brain is different from that of the non-autistic brain. Similarly, patients with epilepsy have also shown cortical reorganization. We present a case study that provides...

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Marawar R, Klinger N, Tarbox-Berry SI, et al. Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation. Epilepsy Behav Rep. 2020;15:100403doi: 10.1016/j.ebr.2020.100403.
Marawar, R., Klinger, N., Tarbox-Berry, S. I., Mittal, S., & Shah, A. K. (2021). Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation. Epilepsy & behavior reports, 15100403. https://doi.org/10.1016/j.ebr.2020.100403
Marawar, Rohit, et al. "Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation." Epilepsy & behavior reports vol. 15 (2021): 100403. doi: https://doi.org/10.1016/j.ebr.2020.100403
Marawar R, Klinger N, Tarbox-Berry SI, Mittal S, Shah AK. Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation. Epilepsy Behav Rep. 2020 Nov 13;15:100403. doi: 10.1016/j.ebr.2020.100403. eCollection 2021. PMID: 33437958; PMCID: PMC7786035.
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An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth.

Neuroscience and biobehavioral reviews

Slinger G, Otte WM, Braun KPJ, van Diessen E.
PMID: 34813826
Neurosci Biobehav Rev. 2021 Nov 20;132:211-223. doi: 10.1016/j.neubiorev.2021.11.028. Epub 2021 Nov 20.

Abnormalities of the brain network organization in focal epilepsy have been extensively quantified. However, the extent and directionality of abnormalities are highly variable and subtype insensitive. We conducted meta-analyses to obtain a more accurate and epilepsy type-specific quantification of...

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Slinger G, Otte WM, Braun KPJ, et al. An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neurosci Biobehav Rev. 2021;132:211-223doi: 10.1016/j.neubiorev.2021.11.028.
Slinger, G., Otte, W. M., Braun, K. P. J., & van Diessen, E. (2021). An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neuroscience and biobehavioral reviews, 132211-223. https://doi.org/10.1016/j.neubiorev.2021.11.028
Slinger, Geertruida, et al. "An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth." Neuroscience and biobehavioral reviews vol. 132 (2021): 211-223. doi: https://doi.org/10.1016/j.neubiorev.2021.11.028
Slinger G, Otte WM, Braun KPJ, van Diessen E. An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neurosci Biobehav Rev. 2021 Nov 20;132:211-223. doi: 10.1016/j.neubiorev.2021.11.028. Epub 2021 Nov 20. PMID: 34813826.
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Silver Coatings in Reconstructive Orthopaedics: Basic Science and Clinical Rationale.

Surgical technology international

Clinger BN, Link HD, Richter DL, Kendoff D, Citak M, Sandiford NA.
PMID: 34816419
Surg Technol Int. 2021 Nov 23;39:413-417.

Prosthetic joint infection (PJI) is one of the most devastating complications that can occur following total hip and total knee arthroplasty. Despite the remarkable advances that have been made in surgical techniques and implant technology, the incidence of PJI...

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Clinger BN, Link HD, Richter DL, et al. Silver Coatings in Reconstructive Orthopaedics: Basic Science and Clinical Rationale. Surg Technol Int. 2021;39:413-417
Clinger, B. N., Link, H. D., Richter, D. L., Kendoff, D., Citak, M., & Sandiford, N. A. (2021). Silver Coatings in Reconstructive Orthopaedics: Basic Science and Clinical Rationale. Surgical technology international, 39413-417.
Clinger, Bryce N, et al. "Silver Coatings in Reconstructive Orthopaedics: Basic Science and Clinical Rationale." Surgical technology international vol. 39 (2021): 413-417.
Clinger BN, Link HD, Richter DL, Kendoff D, Citak M, Sandiford NA. Silver Coatings in Reconstructive Orthopaedics: Basic Science and Clinical Rationale. Surg Technol Int. 2021 Nov 23;39:413-417. PMID: 34816419.
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Uromodulin, Salt, and 24-Hour Blood Pressure in the General Population.

Clinical journal of the American Society of Nephrology : CJASN

Ponte B, Pruijm M, Ackermann D, Olinger E, Youhanna S, Vogt B, Burnier M, Pechere-Bertschi A, Bochud M, Devuyst O.
PMID: 33478975
Clin J Am Soc Nephrol. 2021 May 08;16(5):787-789. doi: 10.2215/CJN.11230720. Epub 2021 Jan 21.

No abstract available.

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Ponte B, Pruijm M, Ackermann D, et al. Uromodulin, Salt, and 24-Hour Blood Pressure in the General Population. Clin J Am Soc Nephrol. 2021;16(5):787-789doi: 10.2215/CJN.11230720.
Ponte, B., Pruijm, M., Ackermann, D., Olinger, E., Youhanna, S., Vogt, B., Burnier, M., Pechere-Bertschi, A., Bochud, M., & Devuyst, O. (2021). Uromodulin, Salt, and 24-Hour Blood Pressure in the General Population. Clinical journal of the American Society of Nephrology : CJASN, 16(5), 787-789. https://doi.org/10.2215/CJN.11230720
Ponte, Belen, et al. "Uromodulin, Salt, and 24-Hour Blood Pressure in the General Population." Clinical journal of the American Society of Nephrology : CJASN vol. 16,5 (2021): 787-789. doi: https://doi.org/10.2215/CJN.11230720
Ponte B, Pruijm M, Ackermann D, Olinger E, Youhanna S, Vogt B, Burnier M, Pechere-Bertschi A, Bochud M, Devuyst O. Uromodulin, Salt, and 24-Hour Blood Pressure in the General Population. Clin J Am Soc Nephrol. 2021 May 08;16(5):787-789. doi: 10.2215/CJN.11230720. Epub 2021 Jan 21. PMID: 33478975; PMCID: PMC8259484.
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An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth.

Neuroscience and biobehavioral reviews

Slinger G, Otte WM, Braun KPJ, van Diessen E.
PMID: 34813826
Neurosci Biobehav Rev. 2021 Nov 20;132:211-223. doi: 10.1016/j.neubiorev.2021.11.028. Epub 2021 Nov 20.

Abnormalities of the brain network organization in focal epilepsy have been extensively quantified. However, the extent and directionality of abnormalities are highly variable and subtype insensitive. We conducted meta-analyses to obtain a more accurate and epilepsy type-specific quantification of...

Cite
Slinger G, Otte WM, Braun KPJ, et al. An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neurosci Biobehav Rev. 2021;132:211-223doi: 10.1016/j.neubiorev.2021.11.028.
Slinger, G., Otte, W. M., Braun, K. P. J., & van Diessen, E. (2021). An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neuroscience and biobehavioral reviews, 132211-223. https://doi.org/10.1016/j.neubiorev.2021.11.028
Slinger, Geertruida, et al. "An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth." Neuroscience and biobehavioral reviews vol. 132 (2021): 211-223. doi: https://doi.org/10.1016/j.neubiorev.2021.11.028
Slinger G, Otte WM, Braun KPJ, van Diessen E. An updated systematic review and meta-analysis of brain network organization in focal epilepsy: Looking back and forth. Neurosci Biobehav Rev. 2021 Nov 20;132:211-223. doi: 10.1016/j.neubiorev.2021.11.028. Epub 2021 Nov 20. PMID: 34813826.
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A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

Human mutation

Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA.
PMID: 34212438
Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26.

Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozygosity mapping, we...

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Olinger E, Alawi IA, Al Riyami MS, et al. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Hum Mutat. 2021;42(10):1221-1228doi: 10.1002/humu.24251.
Olinger, E., Alawi, I. A., Al Riyami, M. S., Salmi, I. A., Molinari, E., Faqeih, E. A., Al-Hamed, M. H., Barroso-Gil, M., Powell, L., Al-Hussaini, A. A., Rahim, K. A., Almontashiri, N. A. M., Miles, C., Shril, S., Hildebrandt, F., Consortium, G. E. R., Wilson, I. J., & Sayer, J. A. (2021). A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human mutation, 42(10), 1221-1228. https://doi.org/10.1002/humu.24251
Olinger, Eric, et al. "A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families." Human mutation vol. 42,10 (2021): 1221-1228. doi: https://doi.org/10.1002/humu.24251
Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26. PMID: 34212438; PMCID: PMC8434971.
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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

American journal of human genetics

Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Harris PC.
PMID: 34890546
Am J Hum Genet. 2022 Jan 06;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 09.

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB,...

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Senum SR, Li YSM, Benson KA, et al. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet. 2021;109(1):136-156doi: 10.1016/j.ajhg.2021.11.016.
Senum, S. R., Li, Y. S. M., Benson, K. A., Joli, G., Olinger, E., Lavu, S., Madsen, C. D., Gregory, A. V., Neatu, R., Kline, T. L., Audrézet, M. P., Outeda, P., Nau, C. B., Meijer, E., Ali, H., Steinman, T. I., Mrug, M., Phelan, P. J., Watnick, T. J., Peters, D. J. M., Ong, A. C. M., Conlon, P. J., Perrone, R. D., Cornec-Le Gall, E., Hogan, M. C., Torres, V. E., Sayer, J. A., & Harris, P. C. (2022). Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. American journal of human genetics, 109(1), 136-156. https://doi.org/10.1016/j.ajhg.2021.11.016
Senum, Sarah R, et al. "Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype." American journal of human genetics vol. 109,1 (2022): 136-156. doi: https://doi.org/10.1016/j.ajhg.2021.11.016
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA, Harris PC. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet. 2022 Jan 06;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 09. PMID: 34890546.
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Ending Neglected Surgical Diseases (NSDs): Definitions, Strategies, and Goals for the Next Decade.

International journal of health policy and management

Henry JA, Volk AS, Kariuki SK, Murungi K, Firmalo T, Masha RL, Henry O, Arimi P, Mwai P, Waiguru E, Mwiti E, Okoro D, Langat A, Mugambi C, Anastasi E, Slinger G, Lavy C, Owen R, Stieber E, Suntay ML, Haddad D, Lane R, Buenaventura J, Parsan N, Abdullah F, Nebeker M, Nebeker L, Mock C, Hollier L, Jani P.
PMID: 32801221
Int J Health Policy Manag. 2020 Aug 11; doi: 10.34172/ijhpm.2020.140. Epub 2020 Aug 11.

While there has been overall progress in addressing the lack of access to surgical care worldwide, untreated surgical conditions in developing countries remain an underprioritized issue. Significant backlogs of advanced surgical disease called neglected surgical diseases (NSDs) result from...

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Henry JA, Volk AS, Kariuki SK, et al. Ending Neglected Surgical Diseases (NSDs): Definitions, Strategies, and Goals for the Next Decade. Int J Health Policy Manag. 2020;doi: 10.34172/ijhpm.2020.140.
Henry, J. A., Volk, A. S., Kariuki, S. K., Murungi, K., Firmalo, T., Masha, R. L., Henry, O., Arimi, P., Mwai, P., Waiguru, E., Mwiti, E., Okoro, D., Langat, A., Mugambi, C., Anastasi, E., Slinger, G., Lavy, C., Owen, R., Stieber, E., Suntay, M. L., Haddad, D., Lane, R., Buenaventura, J., Parsan, N., Abdullah, F., Nebeker, M., Nebeker, L., Mock, C., Hollier, L., & Jani, P. (2020). Ending Neglected Surgical Diseases (NSDs): Definitions, Strategies, and Goals for the Next Decade. International journal of health policy and management, . https://doi.org/10.34172/ijhpm.2020.140
Henry, Jaymie A, et al. "Ending Neglected Surgical Diseases (NSDs): Definitions, Strategies, and Goals for the Next Decade." International journal of health policy and management vol. (2020). doi: https://doi.org/10.34172/ijhpm.2020.140
Henry JA, Volk AS, Kariuki SK, Murungi K, Firmalo T, Masha RL, Henry O, Arimi P, Mwai P, Waiguru E, Mwiti E, Okoro D, Langat A, Mugambi C, Anastasi E, Slinger G, Lavy C, Owen R, Stieber E, Suntay ML, Haddad D, Lane R, Buenaventura J, Parsan N, Abdullah F, Nebeker M, Nebeker L, Mock C, Hollier L, Jani P. Ending Neglected Surgical Diseases (NSDs): Definitions, Strategies, and Goals for the Next Decade. Int J Health Policy Manag. 2020 Aug 11; doi: 10.34172/ijhpm.2020.140. Epub 2020 Aug 11. PMID: 32801221.
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Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Molecular genetics & genomic medicine

Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA.
PMID: 33486889
Mol Genet Genomic Med. 2021 Dec;9(12):e1603. doi: 10.1002/mgg3.1603. Epub 2021 Jan 24.

BACKGROUND: Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome but are also associated...

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Barroso-Gil M, Olinger E, Ramsbottom SA, et al. Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Mol Genet Genomic Med. 2021;9(12):e1603doi: 10.1002/mgg3.1603.
Barroso-Gil, M., Olinger, E., Ramsbottom, S. A., Molinari, E., Miles, C. G., & Sayer, J. A. (2021). Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Molecular genetics & genomic medicine, 9(12), e1603. https://doi.org/10.1002/mgg3.1603
Barroso-Gil, Miguel, et al. "Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies." Molecular genetics & genomic medicine vol. 9,12 (2021): e1603. doi: https://doi.org/10.1002/mgg3.1603
Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA. Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Mol Genet Genomic Med. 2021 Dec;9(12):e1603. doi: 10.1002/mgg3.1603. Epub 2021 Jan 24. PMID: 33486889; PMCID: PMC8683696.
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