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1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38531365
2.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36528028
3.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37517035
4.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37057675
5.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37119330
6.
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Am J Med Genet A
; 191(5): 1261-1272, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36797513
7.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38749428
8.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35916866
9.
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
J Med Genet
; 58(3): 205-212, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32430360
10.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Article
in English
| MEDLINE | ID: mdl-36868207
11.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32681751
12.
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.
J Med Genet
; 53(6): 385-8, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26566882
13.
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Front Mol Neurosci
; 17: 1222935, 2024.
Article
in English
| MEDLINE | ID: mdl-38495551
14.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol
; 148: 164-171, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37734130
15.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Article
in English
| MEDLINE | ID: mdl-33736665
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