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Showing results (801-810 of 885) with videos related to

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The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
Haematologica|June 15, 2004
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?Muriel Giansily-Blaizot, Régis Verdier, Christine Biron-Adréani, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Haematologica|May 5, 2018
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patientsJean Donadieu, Marie Lamant, Claire Fieschi, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Journal of Clinical Immunology|February 28, 2015
Infectious and immunologic phenotype of MECP2 duplication syndromeMichael Bauer, Uwe Kölsch, Renate Krüger, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 89

Showing results (801-810 of 885) with videos related to

Sort By:
Pageof 89
The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
Haematologica|June 15, 2004
Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?Muriel Giansily-Blaizot, Régis Verdier, Christine Biron-Adréani, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Haematologica|May 5, 2018
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patientsJean Donadieu, Marie Lamant, Claire Fieschi, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Journal of Clinical Immunology|February 28, 2015
Infectious and immunologic phenotype of MECP2 duplication syndromeMichael Bauer, Uwe Kölsch, Renate Krüger, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 89