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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover xxx: xxx remover Medical Sciences remover
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1
Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features
Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features
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Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features

Sanford, Erica ; Saadai, Payam ; Lee, Hanmin ; Slavotinek, Anne

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3126-3136 [Periódico revisado por pares]

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2
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome
Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome
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Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome

Stochholm, Kirstine ; Juul, Svend ; Gravholt, Claus Højbjerg

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2421-2429 [Periódico revisado por pares]

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3
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
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BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

Schlade‐Bartusiak, Kamilla ; Brown, Lindsay ; Lomax, Brenda ; Bruyère, Hélène ; Gillan, Tanya ; Hamilton, Sara ; McGillivray, Barbara ; Eydoux, Patrice

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2322-2327 [Periódico revisado por pares]

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4
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male
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A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male

Sorensen, Page L. ; Basuta, Kirin ; Mendoza-Morales, Guadalupe ; Gane, Louise W. ; Schneider, Andrea ; Hagerman, Randi ; Tassone, Flora

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1221-1224 [Periódico revisado por pares]

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5
Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009
Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009
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Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009

Alberman, Eva ; Mutton, David ; Morris, Joan K.

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1145-1150 [Periódico revisado por pares]

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6
Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009
Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009
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Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009

Morris, Joan K. ; Alberman, Eva ; Mutton, David ; Jacobs, Patricia

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1151-1157 [Periódico revisado por pares]

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7
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
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Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient

Tirado, Carlos A. ; Gotway, Garrett ; Torgbe, Emmanuel ; Iyer, Santha ; Dallaire, Stephanie ; Appleberry, Taylor ; Suterwala, Mohamed ; Garcia, Rolando ; Valdez, Federico ; Patel, Sangeeta ; Koduru, Prasad

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.206-214 [Periódico revisado por pares]

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8
Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
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Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

Piccione, Maria ; Antona, R. ; Salzano, E. ; Cavani, S. ; Malacarne, M. ; Morreale Bubella, R. ; Pierluigi, M. ; Viaggi, C.D. ; Corsello, Giovanni

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.150-154 [Periódico revisado por pares]

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9
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis
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Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis

Lakovschek, Ioana Claudia ; Streubel, Berthold ; Ulm, Barbara

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2626-2633 [Periódico revisado por pares]

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10
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
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Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Mikhail, Fady M. ; Lose, Edward J. ; Robin, Nathaniel H. ; Descartes, Maria D. ; Rutledge, Katherine D. ; Rutledge, S. Lane ; Korf, Bruce R. ; Carroll, Andrew J.

American journal of medical genetics. Part A, 2011-10, Vol.155A (10), p.2386-2396 [Periódico revisado por pares]

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