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American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
European Journal of Human Genetics : EJHG
|
November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
Tjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Fertility and Sterility
|
June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Molecular Genetics and Metabolism
|
January 26, 2024
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Sarah C Grünert, Terry G J Derks, Helen Mundy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Journal of Inherited Metabolic Disease
|
May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease
|
July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Oxidative Medicine and Cellular Longevity
|
August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease
|
August 14, 2021
Congenital disorders of glycosylation with defective fucosylation
Andreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.
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of 21
Search research articles
Search
Showing results (121-130 of 205) with videos related to
Sort By:
Page
of 21
American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
European Journal of Human Genetics : EJHG
|
November 11, 2010
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
Tjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, et al.
Fertility and Sterility
|
June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Molecular Genetics and Metabolism
|
January 26, 2024
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Sarah C Grünert, Terry G J Derks, Helen Mundy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, et al.
Biochimica Et Biophysica Acta
|
March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
M Mohamed, M Guillard, S B Wortmann, et al.
Journal of Inherited Metabolic Disease
|
May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease
|
July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.
Oxidative Medicine and Cellular Longevity
|
August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease
|
August 14, 2021
Congenital disorders of glycosylation with defective fucosylation
Andreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.
Page
of 21