Detalhe da pesquisa
1.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Clin Genet
; 99(5): 724-731, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33506509
2.
Musculoskeletal disorders and risk indicators for pain chronification among German dentists: A cross-sectional questionnaire-based study.
J Am Dent Assoc
; 155(6): 536-545, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38713121
3.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23023959
4.
Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.
Clin Case Rep
; 9(5): e04079, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34094554
5.
Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.
J Pediatr Genet
; 6(3): 149-154, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28798887
6.
Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.
J Pediatr Genet
; 6(3): e1, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30800486
7.
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.
Clin Dysmorphol
; 21(1): 1-7, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21946807
8.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Eur J Hum Genet
; 20(6): 598-606, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22333897
9.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Nat Genet
; 43(4): 356-9, 2011 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-21358632