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Showing results (21-30 of 45) with videos related to

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Journal of the American Academy of Dermatology|June 15, 2020
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying diseaseEdwin Cuperus, Marieke C Bolling, Marlies de Graaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2018
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skinEllen H J van den Bogaard, Michel van Geel, Ivonne M J J van Vlijmen-Willems, et al.
American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.
Human Mutation|July 22, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott, Gundula Leschik, Fabienne Trotier, et al.
European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.
Clinical Genetics|July 13, 2010
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisD L Smit, A R Mensenkamp, S Badeloe, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

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Pageof 5
Journal of the American Academy of Dermatology|June 15, 2020
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying diseaseEdwin Cuperus, Marieke C Bolling, Marlies de Graaf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2018
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skinEllen H J van den Bogaard, Michel van Geel, Ivonne M J J van Vlijmen-Willems, et al.
American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.
Human Mutation|July 22, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott, Gundula Leschik, Fabienne Trotier, et al.
European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.
Clinical Genetics|July 13, 2010
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisD L Smit, A R Mensenkamp, S Badeloe, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Frontiers in Neurology|June 24, 2021
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical SpectrumBibiche den Hollander, Anne Rasing, Merel A Post, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Pageof 5