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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
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome
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Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

Baker, Elizabeth K. ; Brewer, Casey J. ; Ferreira, Leonardo ; Schapiro, Mark ; Tenney, Jeffrey ; Wied, Heather M. ; Kline‐Fath, Beth M. ; Smolarek, Teresa A. ; Weaver, K. Nicole ; Hopkin, Robert J.

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.526-539 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930–2019
Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930–2019
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Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930–2019

Kline, Tonie ; Krantz, Ian

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.11-12 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
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Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Mu, Weiyi ; Muriello, Michael ; Clemens, Julia L. ; Wang, You ; Smith, Christy H. ; Tran, Phuong T. ; Rowe, Peter C. ; Francomano, Clair A. ; Kline, Antonie D. ; Bodurtha, Joann

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.561-569 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Cornelia de Lange syndrome and cancer: An open question
Cornelia de Lange syndrome and cancer: An open question
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Cornelia de Lange syndrome and cancer: An open question

Pallotta, Maria M. ; Di Nardo, Maddalena ; Hennekam, Raoul C. M. ; Kaiser, Frank J. ; Parenti, Ilaria ; Pié, Juan ; Ramos, Feliciano J. ; Kline, Antonie D. ; Musio, Antonio

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.292-295 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
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Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

Kline, Antonie D. ; Krantz, Ian D. ; Sommer, Annemarie ; Kliewer, Mark ; Jackson, Laird G. ; FitzPatrick, David R. ; Levin, Alex V. ; Selicorni, Angelo

American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1287-1296 [Periódico revisado por pares]

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

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7
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
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Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Rohatgi, Sarika ; Clark, Dinah ; Kline, Antonie D. ; Jackson, Laird G. ; Pie, Juan ; Siu, Victoria ; Ramos, Feliciano J. ; Krantz, Ian D. ; Deardorff, Matthew A.

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1641-1653 [Periódico revisado por pares]

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

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8
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020
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Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020

Oliver, Chris ; Groves, Laura ; Hansen, Blake D. ; Salehi, Masoud ; Kheradmand, Shaydah ; Carrico, Cheri S. ; Caudill, Patti ; Mattingly, Mark ; Dorsett, Dale ; Chea, Stephenson ; Singh, Vijay Pratap ; Krantz, Ian D. ; Huisman, Sylvia ; Deardorff, Matthew A. ; Kline, Antonie D.

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.1005-1014 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes
Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes
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Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes

Muriello, Michael ; Clemens, Julia L. ; Mu, Weiyi ; Tran, Phuong T. ; Rowe, Peter C. ; Smith, Christy H. ; Francomano, Clair ; Bodurtha, Joann ; Kline, Antonie D.

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1858-1864 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
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Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

Kline, Antonie D. ; Krantz, Ian D. ; Bando, Masashige ; Shirahige, Katsuhiko ; Chea, Stephenson ; Sakata, Toyonori ; Rao, Suhas ; Dorsett, Dale ; Singh, Vijay Pratap ; Gerton, Jennifer L. ; Horsfield, Julia A. ; Calof, Anne L. ; Katz, Olivia ; Grados, Marco ; Raible, Sarah ; Barañano, Kristin ; Lyon, Gholson ; Musio, Antonio ; Carrico, Cheri S. ; Clemens, Douglas K. ; Caudill, Patti ; Massa, Valentina ; McGill, Bryan E. ; Dommestrup, Aila ; O'Connor, Julia ; Haaland, Richard E.

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1080-1090 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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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. Female

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

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