skip to main content
Idioma:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Busca Simples
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: Nome da Publicação: American Journal of Medical Genetics. Part A remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles
Material Type:
Artigo 		Adicionar ao Meu Espaço

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

Nolin, Sarah L. ; Sah, Sachin ; Glicksman, Anne ; Sherman, Stephanie L. ; Allen, Emily ; Berry-Kravis, Elizabeth ; Tassone, Flora ; Yrigollen, Carolyn ; Cronister, Amy ; Jodah, Marcia ; Ersalesi, Nicole ; Dobkin, Carl ; Brown, W. Ted ; Shroff, Raghav ; Latham, Gary J. ; Hadd, Andrew G.

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.771-778 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
2
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

Chong, Shuk Ching ; Cao, Ye ; Fung, Eva L. W. ; Kleppe, Soledad ; Gripp, Karen W. ; Hertecant, Jozef ; El‐Hattab, Ayman W. ; Suleiman, Jehan ; Clark, Gary ; Allmen, Gretchen ; Rodziyevska, Olga ; Lewis, Richard A. ; Rosenfeld, Jill A. ; Dong, Jie ; Wang, Xia ; Miller, Marcus J. ; Bi, Weimin ; Liu, Pengfei ; Scaglia, Fernando

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.776-785 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
3
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Li, Jingjing ; Yang, Wei ; Wang, Yuejun Jessie ; Ma, Chen ; Curry, Cynthia J. ; McGoldrick, Daniel ; Nickerson, Deborah A. ; Chong, Jessica X. ; Blue, Elizabeth E. ; Mullikin, James C. ; Reefhuis, Jennita ; Nembhard, Wendy N. ; Romitti, Paul A. ; Werler, Martha M. ; Browne, Marilyn L. ; Olshan, Andrew F. ; Finnell, Richard H. ; Feldkamp, Marcia L. ; Pangilinan, Faith ; Almli, Lynn M. ; Bamshad, Mike J. ; Brody, Lawrence C. ; Jenkins, Mary M. ; Shaw, Gary M.

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2376-2388 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
4
Clinical features of 78 adults with 22q11 deletion syndrome
Clinical features of 78 adults with 22q11 deletion syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical features of 78 adults with 22q11 deletion syndrome

Bassett, Anne S. ; Chow, Eva W.C. ; Husted, Janice ; Weksberg, Rosanna ; Caluseriu, Oana ; Webb, Gary D. ; Gatzoulis, Michael A.

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.307-313 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
5
Noonan syndrome in diverse populations
Noonan syndrome in diverse populations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Noonan syndrome in diverse populations

Kruszka, Paul ; Porras, Antonio R. ; Addissie, Yonit A. ; Moresco, Angélica ; Medrano, Sofia ; Mok, Gary T. K. ; Leung, Gordon K. C. ; Tekendo‐Ngongang, Cedrik ; Uwineza, Annette ; Thong, Meow‐Keong ; Muthukumarasamy, Premala ; Honey, Engela ; Ekure, Ekanem N. ; Sokunbi, Ogochukwu J. ; Kalu, Nnenna ; Jones, Kelly L. ; Kaplan, Julie D. ; Abdul‐Rahman, Omar A. ; Vincent, Lisa M. ; Love, Amber ; Belhassan, Khadija ; Ouldim, Karim ; El Bouchikhi, Ihssane ; Shukla, Anju ; Girisha, Katta M. ; Patil, Siddaramappa J. ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Paththinige, C. Sampath ; Mishra, Rupesh ; Klein‐Zighelboim, Eva ; Gallardo Jugo, Bertha E. ; Chávez Pastor, Miguel ; Abarca‐Barriga, Hugo H. ; Skinner, Steven A. ; Prijoles, Eloise J. ; Badoe, Eben ; Gill, Ashleigh D. ; Shotelersuk, Vorasuk ; Smpokou, Patroula ; Kisling, Monisha S. ; Ferreira, Carlos R. ; Mutesa, Leon ; Megarbane, Andre ; Kline, Antonie D. ; Kimball, Amy ; Okello, Emmy ; Lwabi, Peter ; Aliku, Twalib ; Tenywa, Emmanuel ; Boonchooduang, Nonglak ; Tanpaiboon, Pranoot ; Richieri‐Costa, Antonio ; Wonkam, Ambroise ; Chung, Brian H. Y. ; Stevenson, Roger E. ; Summar, Marshall ; Mandal, Kausik ; Phadke, Shubha R. ; Obregon, María G. ; Linguraru, Marius G. ; Muenke, Maximilian

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2323-2334 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
6
Williams–Beuren syndrome in diverse populations
Williams–Beuren syndrome in diverse populations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Williams–Beuren syndrome in diverse populations

Kruszka, Paul ; Porras, Antonio R. ; de Souza, Deise Helena ; Moresco, Angélica ; Huckstadt, Victoria ; Gill, Ashleigh D. ; Boyle, Alec P. ; Hu, Tommy ; Addissie, Yonit A. ; Mok, Gary T. K. ; Tekendo‐Ngongang, Cedrik ; Fieggen, Karen ; Prijoles, Eloise J. ; Tanpaiboon, Pranoot ; Honey, Engela ; Luk, Ho‐Ming ; Lo, Ivan F. M. ; Thong, Meow‐Keong ; Muthukumarasamy, Premala ; Jones, Kelly L. ; Belhassan, Khadija ; Ouldim, Karim ; El Bouchikhi, Ihssane ; Bouguenouch, Laila ; Shukla, Anju ; Girisha, Katta M. ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Paththinige, C. Sampath ; Mishra, Rupesh ; Kisling, Monisha S. ; Ferreira, Carlos R. ; de Herreros, María Beatriz ; Lee, Ni‐Chung ; Jamuar, Saumya S. ; Lai, Angeline ; Tan, Ee Shien ; Ying Lim, Jiin ; Wen‐Min, Cham Breana ; Gupta, Neerja ; Lotz‐Esquivel, Stephanie ; Badilla‐Porras, Ramsés ; Hussen, Dalia Farouk ; El Ruby, Mona O. ; Ashaat, Engy A. ; Patil, Siddaramappa J. ; Dowsett, Leah ; Eaton, Alison ; Innes, A. Micheil ; Shotelersuk, Vorasuk ; Badoe, Ëben ; Wonkam, Ambroise ; Obregon, María Gabriela ; Chung, Brian H. Y. ; Trubnykova, Milana ; La Serna, Jorge ; Gallardo Jugo, Bertha Elena ; Chávez Pastor, Miguel ; Abarca Barriga, Hugo Hernán ; Megarbane, Andre ; Kozel, Beth A. ; van Haelst, Mieke M. ; Stevenson, Roger E. ; Summar, Marshall ; Adeyemo, A. Adebowale ; Morris, Colleen A. ; Moretti‐Ferreira, Danilo ; Linguraru, Marius George ; Muenke, Maximilian

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1128-1136 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
7
Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens
Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens
Material Type:
Artigo 		Adicionar ao Meu Espaço

Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens

Mok, Gary T. K. ; Chan, Sharon S. ; Chu, Yoyo W. Y. ; Chan, Sau Man ; Wong, Wilfred H. S. ; Chung, Brian H. Y.

American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2069-2077 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
8
Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation
Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation

Tang, Xinyu ; Cleves, Mario A. ; Nick, Todd G. ; Li, Ming ; MacLeod, Stewart L. ; Erickson, Stephen W. ; Li, Jingyun ; Shaw, Gary M. ; Mosley, Bridget S. ; Hobbs, Charlotte A.

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1231-1242 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
9
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997
Material Type:
Artigo 		Adicionar ao Meu Espaço

Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997

Shaw, Gary M. ; Carmichael, Suzan L. ; Yang, Wei ; Harris, John A. ; Finnell, Richard H. ; Lammer, Edward J.

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.36-40 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
10
Turner syndrome in diverse populations
Turner syndrome in diverse populations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Turner syndrome in diverse populations

Kruszka, Paul ; Addissie, Yonit A. ; Tekendo‐Ngongang, Cedrik ; Jones, Kelly L. ; Savage, Sarah K. ; Gupta, Neerja ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Paththinige, C. Sampath ; Aravena, Teresa ; Nampoothiri, Sheela ; Yesodharan, Dhanya ; Girisha, Katta M. ; Patil, Siddaramappa Jagdish ; Jamuar, Saumya Shekhar ; Goh, Jasmine Chew‐Yin ; Utari, Agustini ; Sihombing, Nydia ; Mishra, Rupesh ; Chitrakar, Neer Shoba ; Iriele, Brenda C. ; Lulseged, Ezana ; Megarbane, Andre ; Uwineza, Annette ; Oyenusi, Elizabeth Eberechi ; Olopade, Oluwarotimi Bolaji ; Fasanmade, Olufemi Adetola ; Duenas‐Roque, Milagros M. ; Thong, Meow‐Keong ; Tung, Joanna Y. L. ; Mok, Gary T. K. ; Fleischer, Nicole ; Rwegerera, Godfrey M. ; Herreros, María Beatriz ; Watts, Johnathan ; Fieggen, Karen ; Huckstadt, Victoria ; Moresco, Angélica ; Obregon, María Gabriela ; Hussen, Dalia Farouk ; Ashaat, Neveen A. ; Ashaat, Engy A. ; Chung, Brian H. Y. ; Badoe, Eben ; Faradz, Sultana M. H. ; El Ruby, Mona O. ; Shotelersuk, Vorasuk ; Wonkam, Ambroise ; Ekure, Ekanem Nsikak ; Phadke, Shubha R. ; Richieri‐Costa, Antonio ; Muenke, Maximilian

American journal of medical genetics. Part A, 2020-02, Vol.182 (2), p.303-313 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (120)
  2. Revistas revisadas por pares (120)

Data de Publicação 

De até
Refinar
  1. Antes de2006  (17)
  2. 2006Até2009  (18)
  3. 2010Até2013  (27)
  4. 2014Até2018  (38)
  5. Após 2018  (25)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Patil, S
  2. Paththinige, C
  3. Shotelersuk, V
  4. Muenke, M
  5. Moresco, A

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.