Detalhe da pesquisa
1.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393337
2.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
3.
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Cleft Palate Craniofac J
; 59(9): 1114-1124, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410171
4.
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?
Rheumatology (Oxford)
; 60(2): 607-616, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32447396
5.
Klotho gene G395A and C1818T polymorphisms in acromegaly: Association with clinical presentation and comorbidities.
Clin Endocrinol (Oxf)
; 94(4): 598-605, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296101
6.
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Am J Med Genet A
; 185(6): 1888-1896, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749994
7.
FTO gene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population.
Int J Food Sci Nutr
; 72(3): 375-385, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32746650
8.
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
J Clin Immunol
; 40(6): 934-939, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620997
9.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Pediatr Diabetes
; 21(7): 1176-1182, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738013
10.
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Neuropediatrics
; 51(6): 445-449, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663882
11.
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Fetal Pediatr Pathol
; 39(2): 163-171, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303091
12.
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.
J Clin Immunol
; 39(1): 99-105, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617623
13.
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Am J Med Genet A
; 179(12): 2474-2480, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31584751
14.
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Am J Med Genet A
; 179(7): 1157-1172, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30980518
15.
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Neuropediatrics
; 50(1): 41-45, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30453357
16.
Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis.
Z Geburtshilfe Neonatol
; 223(5): 297-303, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132797
17.
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
Am J Med Genet A
; 176(9): 2009-2016, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063090
18.
Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.
Am J Perinatol
; 35(5): 427-433, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112995
19.
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Am J Med Genet A
; 173(12): 3143-3152, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28988429
20.
Association between ACE and AGT polymorphism and cardiovascular risk in acromegalic patients.
Pituitary
; 20(5): 569-577, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712073