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1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36368327
2.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38288683
3.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38421105
4.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34748075
5.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341651
6.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100085
7.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31793730
8.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29304375
9.
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
Am J Med Genet A
; 182(11): 2803-2804, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32804443
10.
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
J Clin Endocrinol Metab
; 104(4): 985-993, 2019 04 01.
Article
in English
| MEDLINE | ID: mdl-30383237
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