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Clinical genetics

Showing results (171-180 of 7,172) with videos related to

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Clinical Genetics|October 6, 2021
Prenatal exome sequencing: A useful tool for the fetal neurologistMaayke A de Koning, Mariëtte J V Hoffer, Esther A R Nibbeling, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Clinical Genetics|October 21, 2021
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in ChinaLin Yang, Zejun Wei, Xiang Chen, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Clinical Genetics|July 26, 2022
Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitationsHong Zheng, Taoning Yan, Yunsong Han, et al.
Clinical Genetics|July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.
Clinical Genetics|January 1, 1975
Anthropological significance of phenylketonuriaL F Saugstad
Clinical Genetics|March 1, 1994
The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UKJ C MacMillan, P S Harper
Clinical Genetics|March 1, 1994
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndromeG Zampino, C Colosimo, F Balducci, et al.
Clinical Genetics|March 1, 1994
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric regionC Gendrot, N Ronce, A Toutain, et al.
Pageof 718

Showing results (171-180 of 7,172) with videos related to

Sort By:
Pageof 718
Clinical Genetics|October 6, 2021
Prenatal exome sequencing: A useful tool for the fetal neurologistMaayke A de Koning, Mariëtte J V Hoffer, Esther A R Nibbeling, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Clinical Genetics|October 21, 2021
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in ChinaLin Yang, Zejun Wei, Xiang Chen, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Clinical Genetics|July 26, 2022
Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitationsHong Zheng, Taoning Yan, Yunsong Han, et al.
Clinical Genetics|July 20, 2022
A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyElisa De Franco, Matthew N Wakeling, Russel D Frew, et al.
Clinical Genetics|January 1, 1975
Anthropological significance of phenylketonuriaL F Saugstad
Clinical Genetics|March 1, 1994
The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UKJ C MacMillan, P S Harper
Clinical Genetics|March 1, 1994
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndromeG Zampino, C Colosimo, F Balducci, et al.
Clinical Genetics|March 1, 1994
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric regionC Gendrot, N Ronce, A Toutain, et al.
Pageof 718