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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover
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1
22q11.2 deletion syndrome in diverse populations
22q11.2 deletion syndrome in diverse populations
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22q11.2 deletion syndrome in diverse populations

Paul Kruszka Yonit A Addissie; Daniel E McGinn; Antonio R Porras; Elijah Biggs; Matthew Share; T. Blaine Crowley; Brian H. Y Chung; Gary T. K Mok; Christopher C. Y Mak; Premala Muthukumarasamy; Meow-Keong Thong; Nirmala D Sirisena; Vajira H. W Dissanayake; C. Sampath Paththinige; L. B. Lahiru Prabodha; Rupesh Mishra; Vorasuk Shotelersuk; Ekanem Nsikak Ekure; Ogochukwu Jidechukwu Sokunbi; Nnenna Kalu; Carlos R Ferreira; Jordann-Mishael Duncan; Siddaramappa Jagdish Patil; Kelly L Jones; Julie D Kaplan; Omar A Abdul-Rahman; Annette Uwineza; Leon Mutesa; Angélica Moresco; María Gabriela Obregon; Antonio Richieri-Costa; Vera Lúcia Gil-da-Silva-Lopes; Adebowale A Adeyemo; Marshall Summar; Elaine H Zackai; Donna M McDonald-McGinn; Marius George Linguraru; Maximilian Muenke

American Journal of Medical Genetics. Part A Hoboken v. 173, n. 4, p. 879-888, Feb. 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

2
Down Syndrome in diverse populations
Down Syndrome in diverse populations
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Down Syndrome in diverse populations

Paul Kruszka Antonio R Porras; Andrew K Sobering; Felicia A Ikolo; Samantha La Qua; Vorasuk Shotelersuk; Brian H. Y Chung; Gary T. K Mok; Annette Uwineza; Leon Mutesa; Angélica Moresco; María Gabriela Obregon; Ogochukwu Jidechukwu Sokunbi; Nnenna Kalu; Daniel Akinsanya Joseph; Desmond Ikebudu; Christopher Emeka Ugwu; Christy A. N Okoromah; Yonit A Addissie; Katherine L Pardo; J. Joseph Brough; Ni-Chung Lee; Katta M Girisha; Siddaramappa Jagdish Patil; Ivy S. L Ng; Breana Cham Wen Min; Saumya S Jamuar; Shailja Tibrewal; Batriti Wallang; Suma Ganesh; Nirmala D Sirisena; Vajira H. W Dissanayake; C. Sampath Paththinige; L. B. Lahiru Prabodha; Antonio Richieri-Costa; Premala Muthukumarasamy; Meow-Keong Thong; Kelly L Jones; Omar A Abdul-Rahman; Ekanem Nsikak Ekure; Adebowale A Adeyemo; Marshall Summar; Marius George Linguraru; Maximilian Muenke

American Journal of Medical Genetics. Part A Hoboken v. 173, n. 1, p. 42-53, Jan./2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

3
Noonan syndrome in diverse populations
Noonan syndrome in diverse populations
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Noonan syndrome in diverse populations

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

American Journal of Medical Genetics. Part A Hoboken v. 173, n. 9, p. 2323-2334, Sept. 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

4
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
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Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

Fontes, Marshall I. B. ; Santos, Ana P. ; Molck, Miriam C. ; Simioni, Milena ; Nascimento, Diogo L. L. ; Andrade, Ana K. M. ; Rosenberg, Carla ; Krepischi, Ana C. V. ; Appenzeller, Simone ; Monlleó, Isabella L. ; Gil-da-Silva-Lopes, Vera Lúcia

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.766-772 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

Texto completo disponível

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5
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders

Maussion, Gilles ; Cruceanu, Cristiana ; Rosenfeld, Jill A. ; Bell, Scott C. ; Jollant, Fabrice ; Szatkiewicz, Jin ; Collins, Ryan L. ; Hanscom, Carrie ; Kolobova, Ilaria ; de Champfleur, Nicolas Menjot ; Blumenthal, Ian ; Chiang, Colby ; Ota, Vanessa ; Hultman, Christina ; O'Dushlaine, Colm ; McCarroll, Steve ; Alda, Martin ; Jacquemont, Sebastien ; Ordulu, Zehra ; Marshall, Christian R. ; Carter, Melissa T. ; Shaffer, Lisa G. ; Sklar, Pamela ; Girirajan, Santhosh ; Morton, Cynthia C. ; Gusella, James F. ; Turecki, Gustavo ; Stavropoulos, Dimitri J. ; Sullivan, Patrick F. ; Scherer, Stephen W. ; Talkowski, Michael E. ; Ernst, Carl

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.395-406 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia
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Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia

Marshall, I. ; Betensky, B.P. ; Goseco, Amanda ; Flieder, D. ; Vogiatzi, M.V.

American journal of medical genetics, 2004-01, Vol.124A (2), p.213-215 [Periódico revisado por pares]

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

Texto completo disponível

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Deste Autor:

  1. Patil, S
  2. Paththinige, C
  3. Shotelersuk, V
  4. Sokunbi, O
  5. Muenke, M

Neste Assunto:

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

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

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