Detalhe da pesquisa
1.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
2.
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
N Engl J Med
; 380(12): 1150-1157, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30893535
3.
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Am J Med Genet A
; 182(4): 673-680, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961069
4.
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. Reply.
N Engl J Med
; 380(26): 2586-2587, 2019 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31242376
5.
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Am J Med Genet A
; 170A(1): 11-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373900
6.
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
CMAJ
; 187(2): 102-107, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452324
7.
Psychosis and autism without functional regression in a patient with Kleefstra syndrome.
Psychiatr Genet
; 33(1): 34-36, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617745
8.
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Mol Vis
; 17: 1850-61, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850159
9.
Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.
CJC Open
; 3(10): 1300-1302, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888509
10.
Very Low Vitamin D in a Patient With a Novel Pathogenic Variant in the GC Gene That Encodes Vitamin D-Binding Protein.
J Endocr Soc
; 5(9): bvab104, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589658
11.
Development and Evaluation of Decision Aids to Guide Families' Predictive Testing Choices for Children at Risk for Arrhythmia or Cardiomyopathy.
Can J Cardiol
; 37(10): 1586-1592, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34147624
12.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
13.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Front Genet
; 10: 611, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31417602
14.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
JIMD Rep
; 30: 73-79, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27306203
15.
Time Is of the Essence: A Young Man with Recurrent Pneumothorax and Cavitating Lung Lesions.
Ann Am Thorac Soc
; 15(8): 988-991, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30067098
16.
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Orphanet J Rare Dis
; 8: 98, 2013 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23835272
17.
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PLoS One
; 2(8): e685, 2007 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17668063
18.
Fidelity of primate cell repair of a double-strand break within a (CTG).(CAG) tract. Effect of slipped DNA structures.
J Biol Chem
; 278(36): 33848-56, 2003 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-12807901
19.
Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.
Am J Hum Genet
; 73(5): 1092-105, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14574643