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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
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
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Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders

Summar, Marshall L ; Mew, Nicholas Ah

The Pediatric clinics of North America, 2018-04, Vol.65 (2), p.231 [Periódico revisado por pares]

United States

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5
Shift work in nurses: contribution of phenotypes and genotypes to adaptation
Shift work in nurses: contribution of phenotypes and genotypes to adaptation
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Shift work in nurses: contribution of phenotypes and genotypes to adaptation

Gamble, Karen L ; Motsinger-Reif, Alison A ; Hida, Akiko ; Borsetti, Hugo M ; Servick, Stein V ; Ciarleglio, Christopher M ; Robbins, Sam ; Hicks, Jennifer ; Carver, Krista ; Hamilton, Nalo ; Wells, Nancy ; Summar, Marshall L ; McMahon, Douglas G ; Johnson, Carl Hirschie Goel, Namni

PloS one, 2011-04, Vol.6 (4), p.e18395 [Periódico revisado por pares]

United States: Public Library of Science

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6
The incidence of urea cycle disorders
The incidence of urea cycle disorders
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The incidence of urea cycle disorders

Summar, Marshall L. ; Koelker, Stefan ; Freedenberg, Debra ; Le Mons, Cynthia ; Haberle, Johannes ; Lee, Hye-Seung ; Kirmse, Brian

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.179-180 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
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Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes

Summar, Marshall L ; Dobbelaere, Dries ; Brusilow, Saul ; Lee, Brendan

Acta Paediatrica, 2008-10, Vol.97 (10), p.1420-1425 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria

Wongkittichote, Parith ; Cunningham, Gary ; Summar, Marshall L. ; Pumbo, Elena ; Forny, Patrick ; Baumgartner, Matthias R. ; Chapman, Kimberly A.

Molecular genetics and metabolism, 2019-12, Vol.128 (4), p.444-451 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders
Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders
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Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders

McGuire, Peter J., MS, MD ; Lee, Hye-Seung, PhD ; Summar, Marshall L., MD, PhD

The Journal of pediatrics, 2013-12, Vol.163 (6), p.1705-1710.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Chapman, Kimberly A. ; Gramer, Gwendolyn ; Viall, Sarah ; Summar, Marshall L.

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.106-109 [Periódico revisado por pares]

United States: Elsevier 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. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Female

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

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