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Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
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Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

The American Journal of Human Genetics Cambridge v. 86 n. 5, p. 749-764, may 2010

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

2
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

The American Journal of Human Genetics Cambridge v. 86 n. 5, p. 749-764, may 2010

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

3
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Wapner, Ronald J ; Martin, Christa Lese ; Levy, Brynn ; Ballif, Blake C ; Eng, Christine M ; Zachary, Julia M ; Savage, Melissa ; Platt, Lawrence D ; Saltzman, Daniel ; Grobman, William A ; Klugman, Susan ; Scholl, Thomas ; Simpson, Joe Leigh ; McCall, Kimberly ; Aggarwal, Vimla S ; Bunke, Brian ; Nahum, Odelia ; Patel, Ankita ; Lamb, Allen N ; Thom, Elizabeth A ; Beaudet, Arthur L ; Ledbetter, David H ; Shaffer, Lisa G ; Jackson, Laird

The New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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4
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
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Artigo 		Adicionar ao Meu Espaço

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Leppa, Virpi M. ; Kravitz, Stephanie N. ; Martin, Christa Lese ; Andrieux, Joris ; Le Caignec, Cedric ; Martin-Coignard, Dominique ; DyBuncio, Christina ; Sanders, Stephan J. ; Lowe, Jennifer K. ; Cantor, Rita M. ; Geschwind, Daniel H.

American journal of human genetics, 2016-09, Vol.99 (3), p.540-554 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

Chaste, Pauline ; Klei, Lambertus ; Sanders, Stephan J ; Hus, Vanessa ; Murtha, Michael T ; Lowe, Jennifer K ; Willsey, A. Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E ; Ledbetter, David H ; Mane, Shrikant M ; Martin, Donna M ; Morrow, Eric M ; Walsh, Christopher A ; Sutcliffe, James S ; Lese Martin, Christa ; Beaudet, Arthur L ; Lord, Catherine ; State, Matthew W ; Cook, Edwin H ; Devlin, Bernie

Biological psychiatry (1969), 2015-05, Vol.77 (9), p.775-784 [Periódico revisado por pares]

United States: Elsevier Inc

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6
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Wain, Karen E. ; Palen, Emily ; Savatt, Juliann M. ; Shuman, Devin ; Finucane, Brenda ; Seeley, Andrea ; Challman, Thomas D. ; Myers, Scott M. ; Martin, Christa Lese

Human mutation, 2018-11, Vol.39 (11), p.1660-1667 [Periódico revisado por pares]

United States: Hindawi Limited

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7
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
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Artigo 		Adicionar ao Meu Espaço

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism

Martin, Christa Lese ; Duvall, Jacqueline A. ; Ilkin, Yesim ; Simon, Jason S. ; Arreaza, M. Gladys ; Wilkes, Kristin ; Alvarez-Retuerto, Ana ; Whichello, Amy ; Powell, Cynthia M. ; Rao, Kathleen ; Cook, Edwin ; Geschwind, Daniel H.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2007-10, Vol.144B (7), p.869-876 [Periódico revisado por pares]

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

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8
ClinGen — The Clinical Genome Resource
ClinGen — The Clinical Genome Resource
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ClinGen — The Clinical Genome Resource

Rehm, Heidi L ; Berg, Jonathan S ; Brooks, Lisa D ; Bustamante, Carlos D ; Evans, James P ; Landrum, Melissa J ; Ledbetter, David H ; Maglott, Donna R ; Martin, Christa Lese ; Nussbaum, Robert L ; Plon, Sharon E ; Ramos, Erin M ; Sherry, Stephen T ; Watson, Michael S

The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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9
Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages
Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages
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Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages

Schaeffer, Anthony J. ; Chung, June ; Heretis, Konstantina ; Wong, Andrew ; Ledbetter, David H. ; Lese Martin, Christa

American journal of human genetics, 2004-06, Vol.74 (6), p.1168-1174 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
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Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

Martin, Christa Lese ; Wain, Karen E ; Oetjens, Matthew T ; Tolwinski, Kasia ; Palen, Emily ; Hare-Harris, Abby ; Habegger, Lukas ; Maxwell, Evan K ; Reid, Jeffrey G ; Walsh, Lauren Kasparson ; Myers, Scott M ; Ledbetter, David H

JAMA psychiatry (Chicago, Ill.), 2020-12, Vol.77 (12), p.1276-1285 [Periódico revisado por pares]

United States: American Medical Association

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Deste Autor:

  1. Aradhya, S
  2. Eichler, E
  3. Kaminsky, E
  4. Epstein, C
  5. Ostell, J

Neste Assunto:

  1. Science & Technology
  2. Humans
  3. Life Sciences & Biomedicine
  4. Genetics & Heredity
  5. Female

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

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