Detalhe da pesquisa
1.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478781
2.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
3.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
4.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet
; 98(5): 1001-1010, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108799
5.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245513
6.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Am J Hum Genet
; 97(6): 862-8, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608784
7.
Prenatal treatment of ornithine transcarbamylase deficiency.
Mol Genet Metab
; 123(3): 297-300, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396029
8.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
J Inherit Metab Dis
; 40(1): 121-130, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27696117
9.
Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
Am J Med Genet A
; 167A(1): 142-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402239
10.
Clinical whole-exome sequencing: are we there yet?
Genet Med
; 16(9): 717-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24525916
11.
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Nat Genet
; 32(4): 661-5, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12415272
12.
Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
J Pediatr
; 154(1): 143-6, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19187739
13.
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Eur J Hum Genet
; 26(12): 1810-1818, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30087448
14.
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Lancet
; 363(9412): 852-9, 2004 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-15031030
15.
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Eur J Med Genet
; 48(2): 97-111, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16053902
16.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
J Clin Endocrinol Metab
; 100(2): E333-44, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25383892
17.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Hum Mutat
; 23(2): 147-159, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14722918
18.
Clinical features and management issues in Mowat-Wilson syndrome.
Am J Med Genet A
; 140(24): 2730-41, 2006 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17103451
19.
Developmental outcome in Kabuki syndrome.
Am J Med Genet A
; 132A(3): 263-4, 2005 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15523636
20.
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Mol Genet Metab
; 75(2): 120-7, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11855930