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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
Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement
Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement
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Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement

Cunningham, G. ; Zhou, Yun ; Summar, M.

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100868-100868, Article 100868 [Periódico revisado por pares]

Elsevier Inc

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5
Neurological implications of urea cycle disorders
Neurological implications of urea cycle disorders
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Neurological implications of urea cycle disorders

Gropman, A. L ; Summar, M ; Leonard, J. V

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.865-879 [Periódico revisado por pares]

Dordrecht: Dordrecht : Springer Netherlands

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6
Malignancy in Noonan syndrome and related disorders
Malignancy in Noonan syndrome and related disorders
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Malignancy in Noonan syndrome and related disorders

Smpokou, P. ; Zand, D.J. ; Rosenbaum, K.N. ; Summar, M.L.

Clinical genetics, 2015-12, Vol.88 (6), p.516-522 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department
Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department
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Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department

Majumdar, S. ; McKinley, K.W. ; Chamberlain, J. ; Thomas, B. ; Margulies, S. ; Nickel, R.S. ; Darbari, D.S. ; Campbell, A. ; Berul, C. ; Summar, M. ; Kalsi, G.

Contemporary clinical trials communications, 2023-04, Vol.32, p.101077-101077, Article 101077 [Periódico revisado por pares]

Netherlands: Elsevier Inc

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8
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders
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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Mokhtarani, M. ; Diaz, G.A. ; Rhead, W. ; Lichter-Konecki, U. ; Bartley, J. ; Feigenbaum, A. ; Longo, N. ; Berquist, W. ; Berry, S.A. ; Gallagher, R. ; Bartholomew, D. ; Harding, C.O. ; Korson, M.S. ; McCandless, S.E. ; Smith, W. ; Vockley, J. ; Bart, S. ; Kronn, D. ; Zori, R. ; Cederbaum, S. ; Dorrani, N. ; Merritt, J.L. ; Sreenath-Nagamani, Sandesh ; Summar, M. ; LeMons, C. ; Dickinson, K. ; Coakley, D.F. ; Moors, T.L. ; Lee, B. ; Scharschmidt, B.F.

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.308-314 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs
Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs
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Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs

Eeds, A.M. ; Mortlock, D. ; Wade-Martins, R. ; Summar, M.L.

American journal of human genetics, 2007-04, Vol.80 (4), p.740-750 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
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A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Armstrong, Allison J. ; Collado, Maria Sol ; Henke, Brad R. ; Olson, Matthew W. ; Hoang, Stephen A. ; Hamilton, Christin A. ; Pourtaheri, Taylor D. ; Chapman, Kimberly A. ; Summar, Marshall M. ; Johns, Brian A. ; Wamhoff, Brian R. ; Reardon, John E. ; Figler, Robert A.

Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.71-82 [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. Female
  5. Male

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

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