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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
The past, present, and future of child growth monitoring: A review and primer for clinical genetics
The past, present, and future of child growth monitoring: A review and primer for clinical genetics
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The past, present, and future of child growth monitoring: A review and primer for clinical genetics

Shur, Natasha ; Tigranyan, Annie ; Daymont, Carrie ; Regier, Debra S. ; Raturi, Sumant ; Roshan Lal, Tamanna ; Cleary, Kevin ; Summar, Marshall

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.948-961 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

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5
22q11.2 deletion syndrome in diverse populations
22q11.2 deletion syndrome in diverse populations
Material Type:
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22q11.2 deletion syndrome in diverse populations

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

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.879-888 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule
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Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

Shur, Natasha ; Tinkle, Brad ; Summar, Marshall ; Frasier, Lori ; Shalaby‐Rana, Eglal ; McIntosh, Bruce

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2335-2337 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

Shur, Natasha ; Atabaki, Shireen M. ; Kisling, Monisha S. ; Tabarani, Abir ; Williams, Clarence ; Fraser, Jamie L. ; Regier, Debra ; Summar, Marshall

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.68-72 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse
Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse
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Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse

Shur, Natasha ; Hinds, Tanya ; Shalaby‐Rana, Eglal ; Tinkle, Brad ; Frasier, Lori ; Bulas, Dorothy ; Summar, Marshall ; Jackson, Allison

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2329-2332 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Down syndrome in diverse populations
Down syndrome in diverse populations
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Down syndrome in diverse populations

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

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.42-53 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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10
Cornelia de Lange syndrome in diverse populations
Cornelia de Lange syndrome in diverse populations
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Cornelia de Lange syndrome in diverse populations

Dowsett, Leah ; Porras, Antonio R. ; Kruszka, Paul ; Davis, Brandon ; Hu, Tommy ; Honey, Engela ; Badoe, Eben ; Thong, Meow‐Keong ; Leon, Eyby ; Girisha, Katta M. ; Shukla, Anju ; Nayak, Shalini S. ; Shotelersuk, Vorasuk ; Megarbane, Andre ; Phadke, Shubha ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Ferreira, Carlos R. ; Kisling, Monisha S. ; Tanpaiboon, Pranoot ; Uwineza, Annette ; Mutesa, Leon ; Tekendo‐Ngongang, Cedrik ; Wonkam, Ambroise ; Fieggen, Karen ; Batista, Leticia Cassimiro ; Moretti‐Ferreira, Danilo ; Stevenson, Roger E. ; Prijoles, Eloise J. ; Everman, David ; Clarkson, Kate ; Worthington, Jessica ; Kimonis, Virginia ; Hisama, Fuki ; Crowe, Carol ; Wong, Paul ; Johnson, Kisha ; Clark, Robin D. ; Bird, Lynne ; Masser‐Frye, Diane ; McDonald, Marie ; Willems, Patrick ; Roeder, Elizabeth ; Saitta, Sulgana ; Anyane‐Yeoba, Kwame ; Demmer, Laurie ; Hamajima, Naoki ; Stark, Zornitza ; Gillies, Greta ; Hudgins, Louanne ; Dave, Usha ; Shalev, Stavit ; Siu, Victoria ; Ades, Ann ; Dubbs, Holly ; Raible, Sarah ; Kaur, Maninder ; Salzano, Emanuela ; Jackson, Laird ; Deardorff, Matthew ; Kline, Antonie ; Summar, Marshall ; Muenke, Maximilian ; Linguraru, Marius George ; Krantz, Ian D.

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.150-158 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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Deste Autor:

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

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.