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Refinado por: Nome da Publicação: American Journal of Medical Genetics. Part A remover
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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)

2
Self-injurious behavior in young boys with fragile X syndrome
Self-injurious behavior in young boys with fragile X syndrome
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Self-injurious behavior in young boys with fragile X syndrome

Symons, Frank J. ; Clark, Renee D. ; Hatton, Deborah D. ; Skinner, Martie ; Bailey Jr, Donald B.

American journal of medical genetics. Part A, 2003-04, Vol.118A (2), p.115-121 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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3
Mapping nonverbal IQ in young boys with fragile X syndrome
Mapping nonverbal IQ in young boys with fragile X syndrome
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Mapping nonverbal IQ in young boys with fragile X syndrome

Skinner, Martie ; Hooper, Stephen ; Hatton, Deborah D. ; Roberts, Jane ; Mirrett, Penny ; Schaaf, Jennifer ; Sullivan, Kelly ; Wheeler, Anne ; Bailey Jr, Donald B.

American journal of medical genetics, 2005-01, Vol.132A (1), p.25-32 [Periódico revisado por pares]

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

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4
Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review
Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review
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Comprehensive investigation of the phenotype of MEF2C‐related disorders in human patients: A systematic review

Cooley Coleman, Jessica A. ; Sarasua, Sara M. ; Boccuto, Luigi ; Moore, Hannah Warren ; Skinner, Steven A. ; DeLuca, Jane M.

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3884-3894 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Parental age effects and Rett syndrome
Parental age effects and Rett syndrome
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Parental age effects and Rett syndrome

Fang, Xiaolan ; Baggett, Lauren M. ; Caylor, Raymond C. ; Percy, Alan K. ; Neul, Jeffrey L. ; Lane, Jane B. ; Glaze, Daniel G. ; Benke, Tim A. ; Marsh, Eric D. ; Motil, Kathleen J. ; Barrish, Judy O. ; Annese, Fran E. ; Skinner, Steven A.

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.160-173 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Angelman syndrome: Mutations influence features in early childhood
Angelman syndrome: Mutations influence features in early childhood
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Angelman syndrome: Mutations influence features in early childhood

Tan, Wen-Hann ; Bacino, Carlos A. ; Skinner, Steven A. ; Anselm, Irina ; Barbieri-Welge, Rene ; Bauer-Carlin, Astrid ; Beaudet, Arthur L. ; Bichell, Terry Jo ; Gentile, Jennifer K. ; Glaze, Daniel G. ; Horowitz, Lucia T. ; Kothare, Sanjeev V. ; Lee, Hye-Seung ; Nespeca, Mark P. ; Peters, Sarika U. ; Sahoo, Trilochan ; Sarco, Dean ; Waisbren, Susan E. ; Bird, Lynne M.

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.81-90 [Periódico revisado por pares]

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

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7
A randomized controlled trial of levodopa in patients with Angelman syndrome
A randomized controlled trial of levodopa in patients with Angelman syndrome
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A randomized controlled trial of levodopa in patients with Angelman syndrome

Tan, Wen‐Hann ; Bird, Lynne M. ; Sadhwani, Anjali ; Barbieri‐Welge, Rene L. ; Skinner, Steven A. ; Horowitz, Lucia T. ; Bacino, Carlos A. ; Noll, Lisa M. ; Fu, Cary ; Hundley, Rachel J. ; Wink, Logan K. ; Erickson, Craig A. ; Barnes, Gregory N. ; Slavotinek, Anne ; Jeremy, Rita ; Rotenberg, Alexander ; Kothare, Sanjeev V. ; Olson, Heather E. ; Poduri, Annapurna ; Nespeca, Mark P. ; Chu, Hillary C. ; Willen, Jennifer M. ; Haas, Kevin F. ; Weeber, Edwin J. ; Rufo, Paul A.

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1099-1107 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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8
Noonan syndrome in diverse populations
Noonan syndrome in diverse populations
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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

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9
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
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A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Bird, Lynne M. ; Tan, Wen-Hann ; Bacino, Carlos A. ; Peters, Sarika U. ; Skinner, Steven A. ; Anselm, Irina ; Barbieri-Welge, Rene ; Bauer-Carlin, Astrid ; Gentile, Jennifer K. ; Glaze, Daniel G. ; Horowitz, Lucia T. ; Mohan, K. Naga ; Nespeca, Mark P. ; Sahoo, Trilochan ; Sarco, Dean ; Waisbren, Susan E. ; Beaudet, Arthur L.

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.2956-2963 [Periódico revisado por pares]

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

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10
Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638-1646
Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638-1646
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Erratum to "Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome", Am J Med Genet Part A 161A:1638-1646

Chapleau, Christopher A. ; Lane, Jane ; Kirwin, Susan ; Schanen, Carolyn ; Vinette, Kathy M. B. ; Stubbolo, Danielle ; MacLeod, Patrick ; Glaze, Daniel G. ; Motil, Kathleen J. ; Neul, Jeffrey L. ; Skinner, Steven A. ; Kaufmann, Walter E. ; Percy, Alan K.

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1346-1346 [Periódico revisado por pares]

Hoboken: Blackwell Publishing Ltd

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Deste Autor:

  1. Patil, S
  2. Porras, A
  3. Love, A
  4. Shotelersuk, V
  5. Summar, M

Neste Assunto:

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

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

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