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1
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
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RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Dagan Jenkins Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luís Garcia Alonso NAC; Daniela Franco Bueno; Dian Donnai; Dragana Josifiova; Irene M. J Mathijssen; Jenny E. V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nürnberg; Maria Rita Passos-Bueno; Andrew O. M Wilkie

American Journal of Human Genetics v. 80, n. 6, p. 1162-1170, jun. 2007

Baltimore 2007

Item não circula. Consulte sua biblioteca.(Acessar)

2
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Material Type:
Artigo 		Adicionar ao Meu Espaço

RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Dagan Jenkins Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luís Garcia Alonso NAC; Daniela Franco Bueno; Dian Donnai; Dragana Josifiova; Irene M. J Mathijssen; Jenny E. V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nürnberg; Maria Rita Passos-Bueno; Andrew O. M Wilkie

American Journal of Human Genetics v. 80, n. 6, p. 1162-1170, jun. 2007

Baltimore 2007

Item não circula. Consulte sua biblioteca.(Acessar)

3
Major involvement of trunk muscles in myotonic dystrophy type 1
Major involvement of trunk muscles in myotonic dystrophy type 1
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Major involvement of trunk muscles in myotonic dystrophy type 1

Solbakken, G. ; Ørstavik, K. ; Hagen, T. ; Dietrichs, E. ; Nærland, T.

Acta neurologica Scandinavica, 2016-12, Vol.134 (6), p.467-473 [Periódico revisado por pares]

Denmark: Blackwell Publishing Ltd

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4
Pathological C‐fibres in patients with a chronic painful condition
Pathological C‐fibres in patients with a chronic painful condition
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Pathological C‐fibres in patients with a chronic painful condition

Ørstavik, Kristin ; Weidner, Christian ; Schmidt, Roland ; Schmelz, Martin ; Hilliges, Marita ; Jørum, Ellen ; Handwerker, Herman ; Torebjörk, Erik

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.567-578 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Raffaele di Barletta, Marina ; Ricci, Enzo ; Galluzzi, Giuliana ; Tonali, Pietro ; Mora, Marina ; Morandi, Lucia ; Romorini, Alessandro ; Voit, Thomas ; Orstavik, Karen Helene ; Merlini, Luciano ; Trevisan, Carlo ; Biancalana, Valerie ; Housmanowa-Petrusewicz, Irena ; Bione, Silvia ; Ricotti, Roberta ; Schwartz, Ketty ; Bonne, Giselle ; Toniolo, Daniela

American journal of human genetics, 2000-04, Vol.66 (4), p.1407-1412 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis
A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis
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A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis

Strachan, Tom ; Ross, Alison J ; Ruiz-Perez, Victor ; Wang, Yiming ; Hagan, Donna-Marie ; Scherer, Steve ; Lynch, Sally A ; Lindsay, Susan ; Custard, Emily ; Belloni, Elena ; Wilson, David I ; Wadey, Roy ; Goodman, Frances ; Orstavik, Karen Helene ; Monclair, Tom ; Robson, Steve ; Reardon, William ; Burn, John ; Scambler, Pete

Nature genetics, 1998-12, Vol.20 (4), p.358-361 [Periódico revisado por pares]

London: Nature Publishing Group

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7
High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer
High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer
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High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer

Kristiansen, M ; Knudsen, G P S ; Maguire, P ; Margolin, S ; Pedersen, J ; Lindblom, A ; Ørstavik, K H

Journal of medical genetics, 2005-11, Vol.42 (11), p.877-880 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
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CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy

Van Ghelue, M ; Wahl, C ; Arntzen, K ; Loseth, S ; Bindoff, L ; Sveberg, L ; Rosby, O ; Popperud, T ; Rasmussen, M ; Halvorsen, H ; Lindal, S ; Jonsrud, C ; Orstavik, K

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S232-S233 [Periódico revisado por pares]

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9
Active "itch fibers" in chronic pruritus
Active "itch fibers" in chronic pruritus
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Active "itch fibers" in chronic pruritus

Schmelz, M ; Hilliges, M ; Schmidt, R ; Ørstavik, K ; Vahlquist, C ; Weidner, C ; Handwerker, H O ; Torebjörk, H E

Neurology, 2003-08, Vol.61 (4), p.564-566 [Periódico revisado por pares]

United States

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10
S48: Microneurography – a neurophysiological research method for understanding mechanisms important for neuropathic pain
S48: Microneurography – a neurophysiological research method for understanding mechanisms important for neuropathic pain
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S48: Microneurography – a neurophysiological research method for understanding mechanisms important for neuropathic pain

Ørstavik, K

Clinical neurophysiology, 2014-06, Vol.125, p.S10-S11 [Periódico revisado por pares]

Elsevier Ireland Ltd

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Deste Autor:

  1. Mathijssen, I
  2. Wall, S
  3. Orstavik, K
  4. Passos-Bueno, M
  5. Perlyn, C

Neste Assunto:

  1. Humans
  2. Science & Technology
  3. Life Sciences & Biomedicine
  4. Female
  5. Male

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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