Detalhe da pesquisa
1.
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Clin Genet
; 100(5): 637-640, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34370298
2.
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Hum Mutat
; 40(10): 1676-1683, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299140
3.
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Am J Hum Genet
; 97(6): 790-800, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637975
4.
Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery.
J Pediatr
; 198: 104-109, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29631768
5.
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
J Med Genet
; 54(11): 754-761, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779001
6.
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
J Obstet Gynaecol Can
; 38(8): 742-762.e3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638987
7.
Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Haematologica
; 98(3): 334-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22899577
8.
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
Am J Med Genet A
; 158A(5): 1095-101, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488832
9.
Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
J Pediatr Endocrinol Metab
; 33(3): 443-447, 2020 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352083
10.
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Am J Med Genet A
; 146A(6): 683-90, 2008 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18247425
11.
Testicular mixed germ cell tumor in an adolescent with cowden disease.
Oncology
; 72(3-4): 194-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18160807
12.
Intracranial calcification, retinopathy, and osteopenia: a new syndrome?
Pediatr Neurol
; 26(4): 324-8, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11992766
13.
Miller-dieker syndrome associated with congenital lobar emphysema.
AJP Rep
; 4(1): 13-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25032053
14.
A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.
Horm Res Paediatr
; 82(3): 201-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25012771
15.
A duplication of the mouth associated with a dysontogenic cyst: a case report and discussion of theories of origin.
JAMA Otolaryngol Head Neck Surg
; 140(5): 464-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24676596
16.
Familial recurrence of cerebral palsy with multiple risk factors.
Case Rep Pediatr
; 2011: 307857, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22606510
17.
Two-year neurodevelopmental outcomes of infants undergoing neonatal cardiac surgery for interrupted aortic arch: a descriptive analysis.
J Thorac Cardiovasc Surg
; 138(4): 924-32, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19660371
18.
Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 37(4): 526-9, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18059038
19.
Two-year general and neurodevelopmental outcome after neonatal complex cardiac surgery in patients with deletion 22q11.2: a comparative study.
J Thorac Cardiovasc Surg
; 134(3): 772-9, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17723832