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Amal M Alhashem

Showing results (11-20 of 16) with videos related to

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Journal of Medical Genetics|April 6, 2021
Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephalyIchrak Drissi, Emily Fletcher, Ranad Shaheen, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Journal of Medical Genetics|April 6, 2021
Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephalyIchrak Drissi, Emily Fletcher, Ranad Shaheen, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
Clinical Genetics|October 28, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalitiesSalem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, et al.
Brain : a Journal of Neurology|October 4, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyDana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, et al.
Pageof 2