Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
2.
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Mol Genet Genomics
; 299(1): 55, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38771357
3.
Candidate variants in TUB are associated with familial tremor.
PLoS Genet
; 16(9): e1009010, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32956375
4.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609410
5.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697879
6.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
7.
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Am J Hum Genet
; 100(4): 666-675, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318500
8.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
9.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
10.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
11.
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hum Mol Genet
; 22(25): 5199-214, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918663
12.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(4): 689, 2017 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388435
13.
Regulatory de novo mutations underlying intellectual disability.
Life Sci Alliance
; 6(5)2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854624
14.
Detection of hemophilia by fluorescence spectroscopy: A photodiagnosis approach.
Photodiagnosis Photodyn Ther
; 29: 101598, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31731066
15.
Post-embedding double-labeling of antigen-retrieved ultrathin sections using a silver enhancement-controlled sequential immunogold (SECSI) technique.
J Histochem Cytochem
; 52(1): 141-4, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14688225
16.
Expression of alpha-actinin-4 in acquired human nephrotic syndrome: a quantitative immunoelectron microscopy study.
Nephrol Dial Transplant
; 19(4): 844-51, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15031339