Detalhe da pesquisa
1.
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Hum Mol Genet
; 26(15): 2838-2849, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449119
2.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Am J Hum Genet
; 96(4): 612-22, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817016
3.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Am J Hum Genet
; 92(3): 439-47, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453669
4.
The Danish 22q11 research initiative.
BMC Psychiatry
; 15: 220, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384214
5.
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.
Circulation
; 127(1): 48-54, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197161
6.
Copper deficiency in patients with cystinosis with cysteamine toxicity.
J Pediatr
; 163(3): 754-60, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23651769
7.
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Hum Mutat
; 33(4): 665-73, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190451
8.
MCAD deficiency in Denmark.
Mol Genet Metab
; 106(2): 175-88, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22542437
9.
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Mol Genet Metab
; 107(3): 281-93, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22795865
10.
Cysteamine toxicity in patients with cystinosis.
J Pediatr
; 159(6): 1004-11, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21784456
11.
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Hum Mol Genet
; 17(14): 2172-80, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18411254
12.
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Gastroenterology
; 136(3): 872-82, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19185582
13.
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Mol Genet Metab
; 99(1): 1-3, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19819175
14.
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Mol Genet Metab
; 100(2): 149-54, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350831
15.
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
J Inherit Metab Dis
; 33(5): 495-500, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20066495
16.
Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?
Acta Dermatovenerol Alp Pannonica Adriat
; 29(3): 133-140, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975300
17.
Danish expanded newborn screening is a successful preventive public health programme.
Dan Med J
; 67(1)2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908255
18.
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Am J Med Genet A
; 149A(5): 894-905, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19363806
19.
The impact of consanguinity on the frequency of inborn errors of metabolism.
Dan Med J
; 65(10)2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269750
20.
The impact of consanguinity on the frequency of inborn errors of metabolism.
Mol Genet Metab Rep
; 15: 6-10, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29387562