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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover
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1
Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation
Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation
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Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation

Wester, Ulrika ; Bondeson, Marie-Louise ; Edeby, Christina ; Annerén, Göran

American journal of medical genetics. Part A, 2006-06, Vol.140A (11), p.1164-1171 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes
Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes
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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

Ricciardello, Arianna ; Tomaiuolo, Pasquale ; Persico, Antonio M.

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2211-2233 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS
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Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS

Franciskovich, Rachel ; Soler‐Alfonso, Claudia ; Neira‐Fresneda, Juanita ; Lupski, James R. ; McCann‐Crosby, Bonnie ; Potocki, Lorraine

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2077-2084 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
The first post‐natal clinical description of true mosaic complete tetrasomy 21: A case report
The first post‐natal clinical description of true mosaic complete tetrasomy 21: A case report
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The first post‐natal clinical description of true mosaic complete tetrasomy 21: A case report

Johnson, Desalyn Louise ; Abdala Villa, Caterina ; Lustig, Matthew C. ; Robin, Nathaniel H.

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3507-3509 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype
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Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Ewing, Adam D. ; Cheetham, Seth W. ; McGill, James J. ; Sharkey, Michael ; Walker, Rick ; West, Jennifer A. ; West, Malcolm J. ; Summers, Kim M.

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2070-2083 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
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11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Shinawi, Marwan ; Sahoo, Trilochan ; Maranda, Bruno ; Skinner, S.A. ; Skinner, Cindy ; Chinault, Craig ; Zascavage, Roxanne ; Peters, Sarika U. ; Patel, Ankita ; Stevenson, Roger E. ; Beaudet, Arthur L.

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1272-1280 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
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Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

Cavadino, Alana ; Morris, Joan K.

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.953-958 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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8
The 11q terminal deletion disorder: A prospective study of 110 cases
The 11q terminal deletion disorder: A prospective study of 110 cases
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The 11q terminal deletion disorder: A prospective study of 110 cases

Grossfeld, Paul D. ; Mattina, Teresa ; Lai, Zona ; Favier, Remi ; Jones, Ken Lyons ; Cotter, Finbarr ; Jones, Christopher

American journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.51-61 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses
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Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses

Castori, Marco ; Servadei, Francesca ; Laino, Luigi ; Pascolini, Giulia ; Fabbri, Romano ; Cifani, Anna Elisabetta ; Sforzolini, Giovanna Scassellati ; Silvestri, Evelina ; Grammatico, Paola

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.676-687 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis
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An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

Diehl, Adam ; Mu, Weiyi ; Batista, Denise ; Gunay-Aygun, Meral

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1644-1649 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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