Detalhe da pesquisa
1.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
2.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
3.
Association of clinical severity with FANCB variant type in Fanconi anemia.
Blood
; 135(18): 1588-1602, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32106311
4.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
5.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
6.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280135
7.
Mutations in CSPP1 lead to classical Joubert syndrome.
Am J Hum Genet
; 94(1): 80-6, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360807
8.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet
; 53(9): 608-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208211
9.
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Am J Hum Genet
; 92(3): 392-400, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453666
10.
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
Am J Med Genet A
; 170(6): 1391-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075597
11.
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
Am J Med Genet A
; 167A(11): 2503-2507, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109232
12.
Novel STAMBP mutation and additional findings in an Arabic family.
Am J Med Genet A
; 167A(4): 805-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692795
13.
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
Turk J Pediatr
; 53(3): 346-51, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21980822
14.
Kabuki make-up syndrome with unilateral renal agenesis.
Turk J Pediatr
; 51(3): 298-300, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19817278
15.
A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
Turk J Pediatr
; 51(6): 613-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20196399
16.
Angelman syndrome: clinical findings and follow-up data of 14 patients.
Turk J Pediatr
; 50(2): 137-42, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18664077
17.
Ataxia with vitamin E deficiency associated with deafness.
Turk J Pediatr
; 50(5): 471-5, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19102053
18.
Teratogenicity of Antiepileptic Drugs.
Clin Psychopharmacol Neurosci
; 15(1): 19-27, 2017 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138106
19.
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nat Med
; 23(10): 1226-1233, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869610
20.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28092684