Detalhe da pesquisa
1.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
2.
Deep-Sea Sponges and Corals off the Western Coast of Florida-Intracellular Mechanisms of Action of Bioactive Compounds and Technological Advances Supporting the Drug Discovery Pipeline.
Mar Drugs
; 21(12)2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132936
3.
Update on glycogen storage disease: primary hepatic involvement.
Curr Opin Pediatr
; 34(5): 496-502, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942643
4.
Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome.
Am J Med Genet A
; 185(12): 3821-3824, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34235868
5.
Clinical Exome Studies Have Inconsistent Coverage.
Clin Chem
; 66(1): 199-206, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609854
6.
Red plaque on the back of a newborn.
Pediatr Dermatol
; 41(1): 130-132, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528641
7.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Am J Med Genet A
; 173(8): 2176-2188, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653806
8.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Hum Mol Genet
; 22(21): 4339-48, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773997
9.
Isolated Orotic Aciduria in an 11-Year-Old Boy.
Clin Chem
; 66(2): 396-397, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040582
10.
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
J Pediatr Gastroenterol Nutr
; 70(1): e19-e22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633649
11.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168314
12.
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
Am J Med Genet A
; 155A(12): 3071-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052692
13.
Mediated learning experience and concept maps: a pedagogical tool for achieving meaningful learning in medical physiology students.
Adv Physiol Educ
; 32(4): 312-6, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19047509
14.
Elastic Stain in Pseudopelade of Brocq: a Helpful Histopathological Diagnostic Clue.
Dermatol Pract Concept
; 13(2)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196297
15.
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.
J Child Neurol
; 32(2): 177-183, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27733599
16.
[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia]. / Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia.
Rev Salud Publica (Bogota)
; 19(1): 32-38, 2017.
Artigo
em Espanhol
| MEDLINE | ID: mdl-30137152
17.
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
J Child Neurol
; 31(2): 215-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26060307
18.
Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia / Clinical community genetics: exploring genetic disorders in Boyacá, Colombia
Rev. salud pública
; 19(1): 32-38, ene.-feb. 2017. tab
Artigo
em Espanhol
| LILACS | ID: biblio-903067