Detalhe da pesquisa
1.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
2.
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
BMC Oral Health
; 23(1): 314, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221585
3.
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Cytogenet Genome Res
; 157(4): 189-196, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30974434
4.
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Am J Med Genet A
; 176(12): 2740-2750, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548201
5.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Am J Med Genet A
; 173(12): 3136-3142, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136349
6.
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
7.
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Clin Neurol Neurosurg
; 224: 107560, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580738
8.
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.
Eur J Med Genet
; 60(3): 163-168, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027977
9.
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Orphanet J Rare Dis
; 10: 128, 2015 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419238
10.
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.
Eur J Med Genet
; 57(5): 240-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24631696