Detalhe da pesquisa
1.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34040193
2.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31834374
3.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30097611
4.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29907798
5.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Neurogenetics
; 17(3): 173-8, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27094857
6.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet
; 90(6): 1014-27, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22633399
7.
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
Am J Med Genet A
; 161A(9): 2327-33, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23913759
8.
4q21 microdeletion in a patient with epilepsy and brain malformations.
Am J Med Genet A
; 167(6): 1409-13, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25847229
9.
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?
Otol Neurotol
; 37(10): 1583-1588, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27631835
10.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Eur J Hum Genet
; 24(5): 652-9, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26306646
11.
Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.
Genes Dis
; 2(4): 347-352, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26966713
12.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet
; 22(1): 57-63, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23632792
13.
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
Eur J Med Genet
; 52(4): 265-8, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19100872