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Human Genetics
|
September 7, 2021
The noncoding genome and hearing loss
Karen B Avraham, Lama Khalaily, Yael Noy, et al.
Molecular and Cellular Neurosciences
|
May 3, 2024
Sex-dependent effects of monomeric α-synuclein on calcium and cell death of lateral hypothalamic mouse neurons are altered by orexin
Sara Bohid, Lara Kamal Ali, Cesar Ramon Romero-Leguizamón, et al.
Acta Ophthalmologica
|
March 30, 2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu Diab, Ala'a AlTalbishi, Boris Rosin, et al.
Epilepsia
|
May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Christina Canavati, Karl Martin Klein, Zaid Afawi, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2016
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families
Yasmin A Issa, Lara Kamal, Amal Abu Rayyan, et al.
Cell & Bioscience
|
September 14, 2023
Sex-dependent neuronal effects of α-synuclein reveal that GABAergic transmission is neuroprotective of sleep-controlling neurons
Altair Brito Dos Santos, Siganya Thaneshwaran, Lara Kamal Ali, et al.
Journal of Medical Genetics
|
June 14, 2015
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress
Ariella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, et al.
Human Genomics
|
October 7, 2025
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Zippora Brownstein, Lara Kamal, Shir Mishan-Montefiori, et al.
BMC Medical Genomics
|
June 9, 2026
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder
Christina Canavati, Motee Ashhab, Grace Rabie, et al.
Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
Lara Kamal, Sarah B Pierce, Christina Canavati, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Human Genetics
|
September 7, 2021
The noncoding genome and hearing loss
Karen B Avraham, Lama Khalaily, Yael Noy, et al.
Molecular and Cellular Neurosciences
|
May 3, 2024
Sex-dependent effects of monomeric α-synuclein on calcium and cell death of lateral hypothalamic mouse neurons are altered by orexin
Sara Bohid, Lara Kamal Ali, Cesar Ramon Romero-Leguizamón, et al.
Acta Ophthalmologica
|
March 30, 2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu Diab, Ala'a AlTalbishi, Boris Rosin, et al.
Epilepsia
|
May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Christina Canavati, Karl Martin Klein, Zaid Afawi, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2016
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families
Yasmin A Issa, Lara Kamal, Amal Abu Rayyan, et al.
Cell & Bioscience
|
September 14, 2023
Sex-dependent neuronal effects of α-synuclein reveal that GABAergic transmission is neuroprotective of sleep-controlling neurons
Altair Brito Dos Santos, Siganya Thaneshwaran, Lara Kamal Ali, et al.
Journal of Medical Genetics
|
June 14, 2015
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress
Ariella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, et al.
Human Genomics
|
October 7, 2025
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Zippora Brownstein, Lara Kamal, Shir Mishan-Montefiori, et al.
BMC Medical Genomics
|
June 9, 2026
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder
Christina Canavati, Motee Ashhab, Grace Rabie, et al.
Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Helicase-inactivating <i>BRIP1</i> mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
Lara Kamal, Sarah B Pierce, Christina Canavati, et al.
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of 2