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1
Preventive and community medicine
Preventive and community medicine
Material Type:
Livro 		Adicionar ao Meu Espaço

Preventive and community medicine

Duncan W Clark; Brian MacMahon

Boston Little, Brown c1981

Localização: FSP - Faculdade de Saúde Pública    (614.44 18 2ª )(Acessar)

2
Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature
Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature
Material Type:
Artigo 		Adicionar ao Meu Espaço

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Poskanzer, Sheri A. ; Schultz, Matthew J. ; Turgeon, Coleman T. ; Vidal‐Folch, Noemi ; Liedtke, Kris ; Oglesbee, Devin ; Gavrilov, Dimitar K. ; Tortorelli, Silvia ; Matern, Dietrich ; Rinaldo, Piero ; Bennett, James T. ; Thies, Jenny M. ; Chang, Irene J. ; Beck, Anita E. ; Raymond, Kimiyo ; Allenspach, Eric J. ; Lam, Christina

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.213-218 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Poskanzer, Sheri A. ; Peña, Loren D.M. ; Niu, Zhiyv

Genetics in Medicine Open, 2023, Vol.1 (1), p.100771, Article 100771 [Periódico revisado por pares]

Elsevier Inc

Sem texto completo

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4
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

Yi, Fan ; Poskanzer, Sheri A. ; Myers, Candace T. ; Thies, Jenny ; Collins, Christopher J. ; Dayuha, Remwilyn ; Duong, Phi ; Houwen, Roderick ; Hahn, Si Houn

JIMD reports, 2020-07, Vol.54 (1), p.32-36 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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Artigo 		Adicionar ao Meu Espaço

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Penon-Portmann, Monica ; Poskanzer, Sheri A. ; Ganesh, Jaya ; Chang, Irene

Genetics in Medicine Open, 2023, Vol.1 (1), p.100780, Article 100780 [Periódico revisado por pares]

Elsevier Inc

Sem texto completo

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6
The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Poskanzer, Sheri A. ; Thies, Jenny ; Collins, Christopher J. ; Myers, Candace T. ; Dayuha, Remwilyn ; Duong, Phi ; Yi, Fan ; Chang, Irene J. ; Ochs, Hans D. ; Torgerson, Troy R. ; Hahn, Si Houn

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1172-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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7
FastBit: interactively searching massive data
FastBit: interactively searching massive data
Material Type:
Artigo 		Adicionar ao Meu Espaço

FastBit: interactively searching massive data

Wu, K ; Ahern, S ; Bethel, E W ; Chen, J ; Childs, H ; Cormier-Michel, E ; Geddes, C ; Gu, J ; Hagen, H ; Hamann, B ; Koegler, W ; Lauret, J ; Meredith, J ; Messmer, P ; Otoo, E ; Perevoztchikov, V ; Poskanzer, A ; Prabhat ; Rübel, O ; Shoshani, A ; Sim, A ; Stockinger, K ; Weber, G ; Zhang, W-M

Journal of physics. Conference series, 2009-07, Vol.180 (1), p.012053 [Periódico revisado por pares]

Bristol: IOP Publishing

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8
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
Feeding difficulty and gastrostomy tube placement in infants with Down syndrome
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Feeding difficulty and gastrostomy tube placement in infants with Down syndrome

Poskanzer, Sheri A. ; Hobensack, Victoria L. ; Ciciora, Steven L. ; Santoro, Stephanie L.

European journal of pediatrics, 2020-06, Vol.179 (6), p.909-917 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association
Material Type:
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Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny ; Chang, Irene ; Goldner, Dana L. ; Ng, Bobby G. ; Witters, Peter ; Aqul, Amal ; Velez‐Bartolomei, Frances ; Enns, Gregory M. ; Hsu, Evelyn ; Kichula, Elizabeth ; Lee, Esther ; Lourenco, Charles ; Poskanzer, Sheri A. ; Rasmussen, Sara ; Saarela, Katelyn ; Wang, YunZu M. ; Raymond, Kimiyo M. ; Schultz, Matthew J. ; Freeze, Hudson H. ; Lam, Christina ; Edmondson, Andrew C. ; He, Miao

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.300-312 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Event plane resolution correction for azimuthal anisotropy in wide centrality bins
Event plane resolution correction for azimuthal anisotropy in wide centrality bins
Material Type:
Artigo 		Adicionar ao Meu Espaço

Event plane resolution correction for azimuthal anisotropy in wide centrality bins

Masui, Hiroshi ; Schmah, Alexander ; Poskanzer, A.M.

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2016-10, Vol.833 (C), p.181-185 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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Deste Autor:

  1. MacMahon, B
  2. Clark, D

Neste Assunto:

  1. Science & Technology
  2. Physics
  3. Physical Sciences
  4. Humans
  5. Nuclear Reactions

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