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Showing results (171-180 of 232) with videos related to

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Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Clinical Genetics|February 24, 2017
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 casesE Ranza, C Huber, N Levin, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
Clinical Genetics|June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorderJonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
The Journal of Investigative Dermatology|November 15, 2019
Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype CorrelationMaud Jordan, Virginie Carmignac, Arthur Sorlin, et al.
Pageof 24

Showing results (171-180 of 232) with videos related to

Sort By:
Pageof 24
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Clinical Genetics|February 24, 2017
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 casesE Ranza, C Huber, N Levin, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeVittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
Clinical Genetics|June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorderJonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?Jessica Le Gall, Mathilde Nizon, Olivier Pichon, et al.
The Journal of Investigative Dermatology|November 15, 2019
Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype CorrelationMaud Jordan, Virginie Carmignac, Arthur Sorlin, et al.
Pageof 24