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Showing results (91-100 of 110) with videos related to

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Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Pageof 11

Showing results (91-100 of 110) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
The Journal of Clinical Investigation|February 15, 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorderJustin O Szot, Hartmut Cuny, Ella Mma Martin, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in <i>ADAT3</i> disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Pageof 11