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Showing results (731-740 of 737) with videos related to

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Clinical Genetics|September 24, 2017
Detection of copy number variations in epilepsy using exome dataN Tsuchida, M Nakashima, M Kato, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
The Journal of Frailty & Aging|November 25, 2016
MACVIA-LR (Fighting Chronic Diseases for Active and Healthy Ageing in Languedoc-Roussillon): A Success Story of the European Innovation Partnership on Active and Healthy AgeingJ Bousquet, R Bourret, T Camuzat, et al.
Pageof 74

Showing results (731-740 of 737) with videos related to

Sort By:
Pageof 74
You have reached the last page of results.This site can display upto 737 results.
Clinical Genetics|September 24, 2017
Detection of copy number variations in epilepsy using exome dataN Tsuchida, M Nakashima, M Kato, et al.
Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.
Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
The Journal of Frailty & Aging|November 25, 2016
MACVIA-LR (Fighting Chronic Diseases for Active and Healthy Ageing in Languedoc-Roussillon): A Success Story of the European Innovation Partnership on Active and Healthy AgeingJ Bousquet, R Bourret, T Camuzat, et al.
Pageof 74