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A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
SS Strautnieks, LN Bull, AS Knisely, SA Kocoshis, N Dahl, H Arnell, ...
Nature genetics 20 (3), 233-238, 1998
11861998
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, TN Willig, ...
Nature genetics 21 (2), 169-175, 1999
9851999
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
J Laporte, LJ Hu, C Kretz, JL Mandel, P Kioschis, JF Coy, SM Klauck, ...
Nature genetics 13 (2), 175-182, 1996
7121996
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
C Klein, M Grudzien, G Appaswamy, M Germeshausen, I Sandrock, ...
Nature genetics 39 (1), 86-92, 2007
5882007
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
A Vlachos, S Ball, N Dahl, BP Alter, S Sheth, U Ramenghi, J Meerpohl, ...
British journal of haematology 142 (6), 859-876, 2008
555*2008
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
4881999
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ...
Nature genetics 7 (2), 169-175, 1994
4671994
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12. 3: the first 2,253 cases
F Rousseau, D Heitz, J Tarleton, J MacPherson, H Malmgren, N Dahl, ...
American journal of human genetics 55 (2), 225, 1994
3721994
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
M Lagerström, N Dahl, Y Nakahori, Y Nakagome, B Bäckman, ...
Genomics 10 (4), 971-975, 1991
3171991
The 2588G→ C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with …
A Maugeri, MA van Driel, DJR van de Pol, BJ Klevering, FJJ van Haren, ...
The American Journal of Human Genetics 64 (4), 1024-1035, 1999
3151999
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
TN Willig, N Draptchinskaia, I Dianzani, S Ball, C Niemeyer, U Ramenghi, ...
Blood, The Journal of the American Society of Hematology 94 (12), 4294-4306, 1999
2791999
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor
T Carling, E Szabo, M Bai, P Ridefelt, G Westin, P Gustavsson, S Trivedi, ...
The Journal of Clinical Endocrinology & Metabolism 85 (5), 2042-2047, 2000
2582000
The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
H Arnell, K Hjälmås, M Jägervall, G Läckgren, A Stenberg, B Bengtsson, ...
Journal of medical genetics 34 (5), 360-365, 1997
2471997
The ribosomal basis of Diamond‐Blackfan Anemia: mutation and database update
I Boria, E Garelli, HT Gazda, A Aspesi, P Quarello, E Pavesi, D Ferrante, ...
Human mutation 31 (12), 1269-1279, 2010
2462010
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
RJ Gibbons, S Bachoo, DJ Picketts, S Aftimos, B Asenbauer, JA Bergoffen, ...
Nature genetics 17 (2), 146-148, 1997
2331997
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.
S Håkansson, O Johannsson, U Johansson, G Sellberg, N Loman, ...
American journal of human genetics 60 (5), 1068, 1997
2231997
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes
B Bergendal, J Klar, C Stecksén‐Blicks, J Norderyd, N Dahl
American Journal of Medical Genetics Part A 155 (7), 1616-1622, 2011
2032011
Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome
ML Bondeson, N Dahl, H Malmgren, WJ Kleijer, T Tönnesen, BM Carlberg, ...
Human molecular genetics 4 (4), 615-621, 1995
2011995
Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4
YJM de Kok, ER Vossenaar, CWRJ Cremers, N Dahl, J Laporte, L Jia Hu, ...
Human molecular genetics 5 (9), 1229-1235, 1996
1991996
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
H Matsson, EJ Davey, N Draptchinskaia, I Hamaguchi, A Ooka, P Levéen, ...
Molecular and cellular biology, 2004
1902004
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Artiklar 1–20