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Frances Flinter

Showing results (41-50 of 63) with videos related to

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Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.
Journal of Medical Genetics|January 30, 2026
Expanding the phenotypic spectrum of <i>MECOM</i>-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertensionCarrie L Welch, Meriel McEntagart, Shahin Moledina, et al.
Journal of the American Society of Nephrology : JASN|September 30, 2003
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.
Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Journal of the American Society of Nephrology : JASN|April 7, 2000
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in malesJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
European Journal of Human Genetics : EJHG|March 9, 2022
The 2019 and 2021 International Workshops on Alport SyndromeSergio Daga, Jie Ding, Constantinos Deltas, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.
Journal of Medical Genetics|January 30, 2026
Expanding the phenotypic spectrum of <i>MECOM</i>-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertensionCarrie L Welch, Meriel McEntagart, Shahin Moledina, et al.
Journal of the American Society of Nephrology : JASN|September 30, 2003
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.
Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Journal of the American Society of Nephrology : JASN|April 7, 2000
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in malesJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.
European Journal of Human Genetics : EJHG|March 9, 2022
The 2019 and 2021 International Workshops on Alport SyndromeSergio Daga, Jie Ding, Constantinos Deltas, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Pageof 7