Detalhe da pesquisa
1.
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Clin Genet
; 93(4): 860-869, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194579
2.
The Danish HD Registry-a nationwide family registry of HD families in Denmark.
Clin Genet
; 92(3): 338-341, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28155235
3.
Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy.
Acta Neurol Scand
; 128(3): 194-201, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23410246
4.
Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation.
Int J Androl
; 34(6 Pt 2): e642-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21977989
5.
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Br J Dermatol
; 165(3): 678-82, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21574979
6.
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Am J Med Genet A
; 152A(2): 313-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082460
7.
Mapping enteroendocrine cell populations in transgenic mice reveals an unexpected degree of complexity in cellular differentiation within the gastrointestinal tract.
J Cell Biol
; 110(5): 1791-801, 1990 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-2186049
8.
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Clin Genet
; 74(6): 522-30, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18616531
9.
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
Clin Genet
; 74(3): 252-9, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18510547
10.
Alport syndrome in southern Sweden.
Clin Nephrol
; 64(2): 85-90, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16114783
11.
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hum Mutat
; 18(2): 141-8, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11462238
12.
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
Eur J Hum Genet
; 8(6): 431-6, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10878663
13.
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
Eur J Hum Genet
; 9(10): 753-7, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781686
14.
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Eur J Hum Genet
; 6(5): 432-8, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9801867
15.
Genetic analysis of repeated, biparental, diploid, hydatidiform moles.
Cancer Genet Cytogenet
; 66(1): 16-22, 1993 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8096796
16.
Effects of acute and chronic cocaine on milk intake, body weight, and activity in bottle- and cannula-fed rats.
Behav Pharmacol
; 6(7): 746-753, 1995 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11224377
17.
[Juvenile neuronal ceroid lipofuscinosis]. / Juvenil neuronal ceroid lipofuscinosis.
Ugeskr Laeger
; 160(26): 3895-900, 1998 Jun 22.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-9656828
18.
[Hereditary neuropathy with liability to pressure palsies]. / Hereditaer neuropati med tendens til trykpareser.
Ugeskr Laeger
; 161(23): 3463-5, 1999 Jun 07.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-10388355
19.
[Transabdominal chorion villus biopsy following abnormal ultrasonic findings in the second trimester]. / Transabdominal chorion villus biopsi ved abnormt ultralydfund i 2. trimester.
Ugeskr Laeger
; 152(1): 28-30, 1990 Jan 01.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-2404360
20.
[Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis]. / Meget svaer spinal muskelatrofi--type 0. En årsag til arthrogryposis multiplex congenita.
Ugeskr Laeger
; 163(41): 5679-80, 2001 Oct 08.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-11665473