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European Journal of Human Genetics : EJHG
|
October 21, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Fanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, et al.
BMC Medicine
|
January 28, 2024
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so far
Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, et al.
Human Genetics
|
January 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, et al.
Pigment Cell & Melanoma Research
|
May 9, 2024
Genotypic spectrum of albinism in Mali
Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, et al.
Stem Cell Research
|
August 27, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8
Daria Mamaeva, Nejla Erkilic, Christel Vaché, et al.
Journal of Autism and Developmental Disorders
|
April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome
Cédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
Journal of Medical Genetics
|
July 17, 2023
A multilayered approach to the analysis of genetic data from individuals with suspected albinism
Panagiotis I Sergouniotis, Vincent Michaud, Eulalie Lasseaux, et al.
Pigment Cell & Melanoma Research
|
October 5, 2017
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting
Aurélie Marti, Eulalie Lasseaux, Khaled Ezzedine, et al.
European Journal of Medical Genetics
|
April 29, 2011
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, et al.
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of 9
Search research articles
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Showing results (31-40 of 82) with videos related to
Sort By:
Page
of 9
European Journal of Human Genetics : EJHG
|
October 21, 2016
Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype
Fanny Morice-Picard, Giovanni Benard, Hamid R Rezvani, et al.
BMC Medicine
|
January 28, 2024
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, et al.
European Journal of Human Genetics : EJHG
|
June 15, 2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so far
Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, et al.
Human Genetics
|
January 21, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, et al.
Pigment Cell & Melanoma Research
|
May 9, 2024
Genotypic spectrum of albinism in Mali
Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, et al.
Stem Cell Research
|
August 27, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8
Daria Mamaeva, Nejla Erkilic, Christel Vaché, et al.
Journal of Autism and Developmental Disorders
|
April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome
Cédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
Journal of Medical Genetics
|
July 17, 2023
A multilayered approach to the analysis of genetic data from individuals with suspected albinism
Panagiotis I Sergouniotis, Vincent Michaud, Eulalie Lasseaux, et al.
Pigment Cell & Melanoma Research
|
October 5, 2017
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting
Aurélie Marti, Eulalie Lasseaux, Khaled Ezzedine, et al.
European Journal of Medical Genetics
|
April 29, 2011
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, et al.
Page
of 9