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Refinado por: Nome da Publicação: American Journal of Medical Genetics Part A remover nível superior: Recursos Online remover
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1
Elements of morphology: Standard terminology for the nose and philtrum
Elements of morphology: Standard terminology for the nose and philtrum
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Elements of morphology: Standard terminology for the nose and philtrum

Hennekam, Raoul C.M. ; Cormier-Daire, Valerie ; Hall, Judith G. ; Méhes, Károly ; Patton, Michael ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2009-01, Vol.149A (1), p.61-76 [Periódico revisado por pares]

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

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2
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
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A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Célia Maria Giacheti Sthella Zanchetta; Elizandra Maranhe; Tatiana Vialôgo Cassab; Dagma Venturini Marques Abramides; Deise Helena Souza; Luciana Paula Maximino De Vitto; Antonio Richieri-Costa

American Journal of Medical Genetics Part A Hoboken v. 143A, n. 24, p. 3137-3139, 2007

Hoboken 2007

Acesso online

3
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
Material Type:
Artigo 		Adicionar ao Meu Espaço

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Célia Maria Giacheti Sthella Zanchetta; Elizandra Maranhe; Tatiana Vialôgo Cassab; Dagma Venturini Marques Abramides; Deise Helena Souza; Luciana Paula Maximino De Vitto; Antonio Richieri-Costa

American Journal of Medical Genetics Part A Hoboken v. 143A, n. 24, p. 3137-3139, 2007

Hoboken 2007

Acesso online

4
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
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Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature

Brasseur, Benjamin ; Martin, Cindy M. ; Cayci, Zuzan ; Burmeister, Lynn ; Schimmenti, Lisa A.

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1302-1307 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Making extra teeth: Lessons from a TRPS1 mutation
Making extra teeth: Lessons from a TRPS1 mutation
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Making extra teeth: Lessons from a TRPS1 mutation

Kunotai, Worawan ; Ananpornruedee, Panjit ; Lubinsky, Mark ; Pruksametanan, Apitchaya ; Kantaputra, Piranit Nik

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.99-107 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Parker, Michael J. ; Fryer, Alan E. ; Shears, Deborah J. ; Lachlan, Katherine L. ; McKee, Shane A. ; Magee, Alex C. ; Mohammed, Shehla ; Vasudevan, Pradeep C. ; Park, Soo-Mi ; Benoit, Valérie ; Lederer, Damien ; Maystadt, Isabelle ; study, DDD ; FitzPatrick, David R.

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2231-2237 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
FOXP1 mutations cause intellectual disability and a recognizable phenotype
FOXP1 mutations cause intellectual disability and a recognizable phenotype
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FOXP1 mutations cause intellectual disability and a recognizable phenotype

Le Fevre, Anna K. ; Taylor, Sharelle ; Malek, Neva H. ; Horn, Denise ; Carr, Christopher W. ; Abdul-Rahman, Omar A. ; O'Donnell, Sherindan ; Burgess, Trent ; Shaw, Marie ; Gecz, Jozef ; Bain, Nicole ; Fagan, Kerry ; Hunter, Matthew F.

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3166-3175 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
A recognizable phenotype related to 19p13.12 microdeletion
A recognizable phenotype related to 19p13.12 microdeletion
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A recognizable phenotype related to 19p13.12 microdeletion

de Souza, Laiara Cristina ; Sgardioli, Ilária Cristina ; Gil‐da‐Silva‐Lopes, Vera Lúcia ; Vieira, Társis Paiva

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1753-1759 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
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Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

Kayserili, Hülya ; Altunoglu, U. ; Ozgur, H. ; Basaran, S. ; Uyguner, Z.O.

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.236-244 [Periódico revisado por pares]

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

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10
Perthes disease: A new finding in Floating‐Harbor syndrome
Perthes disease: A new finding in Floating‐Harbor syndrome
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Perthes disease: A new finding in Floating‐Harbor syndrome

Milani, Donatella ; Scuvera, Giulietta ; Gatti, Marta ; Tolva, Gianluca ; Bonarrigo, Francesca ; Esposito, Susanna ; Gervasini, Cristina

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.703-706 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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Deste Autor:

  1. Maranhe, E
  2. Abramides, D
  3. De Vitto, L
  4. Cassab, T
  5. Zanchetta, S

Neste Assunto:

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

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

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