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Refinado por: assunto: Human Chromosome Abnormalities remover
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Danazol Treatment for Telomere Diseases
Danazol Treatment for Telomere Diseases
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Danazol Treatment for Telomere Diseases

Townsley, Danielle M ; Dumitriu, Bogdan ; Liu, Delong ; Biancotto, Angélique ; Weinstein, Barbara ; Chen, Christina ; Hardy, Nathan ; Mihalek, Andrew D ; Lingala, Shilpa ; Kim, Yun Ju ; Yao, Jianhua ; Jones, Elizabeth ; Gochuico, Bernadette R ; Heller, Theo ; Wu, Colin O ; Calado, Rodrigo T ; Scheinberg, Phillip ; Young, Neal S

The New England journal of medicine, 2016-05, Vol.374 (20), p.1922-1931 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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12
Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk
Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk
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Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk

Henrich, Vincent ; Orlando, Lori A ; Shirts, Brian H

San Diego: Elsevier Science & Technology 2020

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13
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
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Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay

Wang, Jing ; Wang, Wei ; Zhou, Wenbo ; Zhou, Yan ; Zhou, Linna ; Wang, Xinyue ; Yu, Bin ; Zhang, Bin

Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-278, Article 278 [Periódico revisado por pares]

London: BioMed Central Ltd

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14
Testing Fate: Tay-Sachs Disease and the Right to Be Responsible
Testing Fate: Tay-Sachs Disease and the Right to Be Responsible
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Testing Fate: Tay-Sachs Disease and the Right to Be Responsible

Reuter, Shelley Z

Minneapolis: University of Minnesota Press 2016

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15
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome
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A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome

Barlow, Jillian L ; Drynan, Lesley F ; Hewett, Duncan R ; Holmes, Luke R ; Lorenzo-Abalde, Silvia ; Lane, Alison L ; Jolin, Helen E ; Pannell, Richard ; Middleton, Angela J ; Wong, See Heng ; Warren, Alan J ; Wainscoat, James S ; Boultwood, Jacqueline ; McKenzie, Andrew N J

Nature medicine, 2010-01, Vol.16 (1), p.59-66 [Periódico revisado por pares]

United States: Nature Publishing Group

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16
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study
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Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

Lu, Fengying ; Xue, Peng ; Zhang, Bin ; Wang, Jing ; Yu, Bin ; Liu, Jianbin

Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.2-2, Article 2 [Periódico revisado por pares]

England: BioMed Central Ltd

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17
Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context: Description of a T18 Cyclopic Fetus and Comparison Between Edwards (T18), Patau (T13) and Down (T21) Syndromes Using 3-D Imaging and Anatomical Illustrations
Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context: Description of a T18 Cyclopic Fetus and Comparison Between Edwards (T18), Patau (T13) and Down (T21) Syndromes Using 3-D Imaging and Anatomical Illustrations
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Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context: Description of a T18 Cyclopic Fetus and Comparison Between Edwards (T18), Patau (T13) and Down (T21) Syndromes Using 3-D Imaging and Anatomical Illustrations

Diogo, Rui Ziermann, Janine M ; Smith, Christopher M

United States: CRC Press 2015

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18
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
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An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis

Silva, Isabela Mayá Wayhs ; Gil-da-Silva-Lopes, Vera Lúcia

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.67-67, Article 67 [Periódico revisado por pares]

England: BioMed Central Ltd

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19
Polycystic Kidney Disease: from Bench to Bedside
Polycystic Kidney Disease: from Bench to Bedside
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Polycystic Kidney Disease: from Bench to Bedside

Gattone, Vincent H ; Gattone, Robert L

London: Future Medicine Ltd 2013

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20
To Test or Not To Test: A Guide to Genetic Screening and Risk
To Test or Not To Test: A Guide to Genetic Screening and Risk
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To Test or Not To Test: A Guide to Genetic Screening and Risk

Zallen, Doris Teichler

United States: Rutgers University Press 2008

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Deste Autor:

  1. Wells, R
  2. Sarmiento, M
  3. Warren, S
  4. Berg, K
  5. Rodeck, C

Neste Assunto:

  1. Human Chromosome Abnormalities
  2. Human Chromosome Abnormalities
  3. Diagnosis
  4. Humans
  5. Genetics

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

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