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1.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Article
in English
| MEDLINE | ID: mdl-37352860
2.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32822602
3.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30879640
4.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Am J Hum Genet
; 105(6): 1237-1253, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31785787
5.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Article
in English
| MEDLINE | ID: mdl-31031012
6.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30827496
7.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30580808
8.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
9.
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Hum Genet
; 137(11-12): 905-909, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30368667
10.
The anticancer potential of the CLK kinases inhibitors 1C8 and GPS167 revealed by their impact on the epithelial-mesenchymal transition and the antiviral immune response.
Oncotarget
; 15: 313-325, 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38753413
11.
Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration.
Nat Commun
; 13(1): 7077, 2022 11 18.
Article
in English
| MEDLINE | ID: mdl-36400788
12.
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Eur J Hum Genet
; 28(4): 461-468, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31695177
13.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 2079, 2019 May 02.
Article
in English
| MEDLINE | ID: mdl-31048695
14.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 883, 2019 02 15.
Article
in English
| MEDLINE | ID: mdl-30770872
15.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 9(1): 4619, 2018 11 05.
Article
in English
| MEDLINE | ID: mdl-30397230
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