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1.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Article
in English
| MEDLINE | ID: mdl-32197073
2.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Article
in English
| MEDLINE | ID: mdl-32553196
3.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30612693
4.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34188164
5.
Multicenter study of mortality in achondroplasia.
Am J Med Genet A
; 176(11): 2359-2364, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30276962
6.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(12): 7852, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34282265
7.
Pseudoachondroplasia and painful sequelae.
Am J Med Genet A
; 167A(11): 2618-22, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26177939
8.
Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother.
Prenat Diagn
; 34(11): 1115-8, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24933341
9.
Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.
J Pediatr Endocrinol Metab
; 29(9): 1089-93, 2016 Sep 01.
Article
in English
| MEDLINE | ID: mdl-27487489
10.
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Eur J Hum Genet
; 23(3): 342-6, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-24986830
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