Detalhe da pesquisa
1.
Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.
Am J Med Genet A
; : e63654, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38738944
2.
Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.
Am J Med Genet A
; 188(6): 1881-1884, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224863
3.
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
Am J Med Genet A
; 188(9): 2712-2717, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35758610
4.
From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
Am J Med Genet A
; 185(8): 2325-2334, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951304
5.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
6.
Novel mutation in SUCLA2 identified on sequencing analysis.
Pediatr Int
; 58(7): 659-61, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26952923
7.
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
Am J Med Genet A
; 167A(2): 385-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25487361
8.
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
Am J Med Genet A
; 161A(7): 1737-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686885
9.
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
Am J Med Genet A
; 173(12): 3132-3135, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29055141
10.
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
Childs Nerv Syst
; 28(12): 2181-3, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965773
11.
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.
J Orofac Orthop
; 83(Suppl 1): 65-74, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33725141
12.
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.
Clin Dysmorphol
; 31(4): 167-173, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36004946
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.
Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse.
Cardiol Young
; 20(2): 173-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20199707
15.
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.
Clin Dysmorphol
; 29(4): 189-192, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32657847
16.
Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation.
Turk Pediatri Ars
; 55(3): 304-308, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33061760
17.
Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene.
Int J Pediatr Otorhinolaryngol
; 117: 179-181, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579078
18.
A case report of Hennekam syndrome with a mutation in the CCBE1 gene.
Clin Dysmorphol
; 33(2): 87-89, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441203
19.
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Eur J Med Genet
; 62(12): 103588, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472488
20.
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss.
Am J Obstet Gynecol
; 199(6): 662.e1-5, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18822402