skip to main content
Idioma:
Resultados 1 2 3 next page
Mostrar Somente
Refinado por: Base de dados/Biblioteca: Wiley-Blackwell Full Collection 2013 remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
International nomenclature and classification of the osteochondrodysplasias (1997)
International nomenclature and classification of the osteochondrodysplasias (1997)
Material Type:
Artigo 		Adicionar ao Meu Espaço

International nomenclature and classification of the osteochondrodysplasias (1997)

Rimoin, D L ; Francomano, CA ; Giedion, A ; Hall, C ; Kaitila, I ; Cohn, D ; Gorlin, R ; Hall, J ; Horton, W ; Krakow, D ; Le Merrer, M ; Lachman, R ; Mundlos, S ; Poznanski, A K

American journal of medical genetics, 1998-10, Vol.79 (5), p.376-382 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
2
Architecture, You and Me. The Diary of a Development
Architecture, You and Me. The Diary of a Development
Material Type:
Resenha 		Adicionar ao Meu Espaço

Architecture, You and Me. The Diary of a Development

Zucker, Paul

The Journal of Aesthetics and Art Criticism, 1958, Vol.17 (2), p.269-270 [Periódico revisado por pares]

The American Society for Aesthetics

Texto completo disponível

Citações Citado por
3
Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications
Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications
Material Type:
Artigo 		Adicionar ao Meu Espaço

Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications

Schinzel, Albert ; Riegel, Mariluce ; Baumer, Alessandra ; Superti-Furga, Andrea ; Moreira, Lilia M.A. ; Santo, Layla D.E. ; Schiper, Patricia P. ; Carvalho, José Henrique Dantas ; Giedion, Andres

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2216-2225 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
4
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Material Type:
Artigo 		Adicionar ao Meu Espaço

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Renella, Raffaele ; Schaefer, Elke ; LeMerrer, Martine ; Alanay, Yasemin ; Kandemir, Nurgun ; Eich, Georg ; Costa, Teresa ; Ballhausen, Diana ; Boltshauser, Eugen ; Bonafé, Luisa ; Giedion, Andres ; Unger, Sheila ; Superti-Furga, Andrea

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
5
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
Material Type:
Artigo 		Adicionar ao Meu Espaço

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

Bonafé, L ; Schmitt, K ; Eich, G ; Giedion, A ; Superti-Furga, A

Clinical genetics, 2002-02, Vol.61 (2), p.146-151 [Periódico revisado por pares]

Oxford, UK: Blackwell Science, Ltd

Texto completo disponível

Citações Citado por
6
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
Material Type:
Artigo 		Adicionar ao Meu Espaço

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Bonafé, Luisa ; Liang, Jinlong ; Gorna, Maria W. ; Zhang, Qingyan ; Ha-Vinh, Russia ; Campos-Xavier, Ana Belinda ; Unger, Sheila ; Beckmann, Jacques S. ; Le Béchec, Antony ; Stevenson, Brian ; Giedion, Andres ; Liu, Xuanzhu ; Superti-Furga, Giulio ; Wang, Wei ; Spahr, André ; Superti-Furga, Andrea

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1175-1179 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
7
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
Material Type:
Artigo 		Adicionar ao Meu Espaço

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications

Schinzel, Albert ; Riegel, Mariluce ; Baumer, Alessandra ; Superti-Furga, Andrea ; Moreira, Lilia M A ; Santo, Layla D E ; Schiper, Patricia P ; Carvalho, José Henrique Dantas ; Giedion, Andres

Wiley-Blackwell 2013

Texto completo disponível

Citações Citado por
8
Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency
Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pronounced short stature in a girl with tricho‐rhino‐phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency

Riedl, S. ; Giedion, A. ; Schweitzer, K. ; Müllner‐Eidenböck, A. ; Grill, F. ; Frisch, H. ; Lüdecke, H.‐J.

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.200-203 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
9
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Pihlajamaa, Tero ; Prockop, Darwin J. ; Faber, Jörg ; Winterpacht, Andreas ; Zabel, Bernhard ; Giedion, Andres ; Wiesbauer, Peter ; Spranger, Jürgen ; Ala-Kokko, Leena

American journal of medical genetics, 1998-11, Vol.80 (2), p.115-120 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
10
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

Cormier-Daire, V. ; Superti-Furga, A. ; Munnich, A. ; Lyonnet, S. ; Rustin, P. ; Delezoide, A.L. ; De Lonlay, P. ; Giedion, A. ; Maroteaux, P. ; Le Merrer, M.

American journal of medical genetics, 1998-06, Vol.78 (2), p.146-149 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (20)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (22)
  2. Resenhas  (5)
  3. Reports  (1)
  4. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1958  (4)
  2. 1958Até1979  (4)
  3. 1980Até1995  (3)
  4. 1996Até2002  (11)
  5. Após 2002  (7)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.