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Dahl N
Dahl N
Unknown affiliation
Verified email at igp.uu.se
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Cited by
Year
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
12301998
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
10201999
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
7381996
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
6252007
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
615*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
5131999
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
4821994
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
3701994
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
3321991
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
3231999
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
2821999
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
2662010
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
2602000
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
2511997
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
2371997
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
2261997
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
2222011
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
2141995
Alpha-cardiac actin mutations produce atrial septal defects
H Matsson, J Eason, CS Bookwalter, J Klar, P Gustavsson, J Sunnegårdh, ...
Human molecular genetics 17 (2), 256-265, 2008
2052008
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
J Klar, M Schweiger, R Zimmerman, R Zechner, H Li, H Törmä, ...
The American Journal of Human Genetics 85 (2), 248-253, 2009
2032009
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