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1.
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Am J Med Genet A
; 191(9): 2446-2450, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37337918
2.
Identifying adaptive alleles in the human genome: from selection mapping to functional validation.
Hum Genet
; 140(2): 241-276, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-32728809
3.
Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation.
Am J Phys Anthropol
; 160(4): 570-81, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27435525
4.
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
bioRxiv
; 2024 Apr 22.
Article
in English
| MEDLINE | ID: mdl-38712026
5.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Article
in English
| MEDLINE | ID: mdl-38388531
6.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
; 4(3): 100198, 2023 07 13.
Article
in English
| MEDLINE | ID: mdl-37181331
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