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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover xxx: xxx remover Medical Sciences remover
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1
Is the prevalence of Klinefelter syndrome increasing?
Is the prevalence of Klinefelter syndrome increasing?
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Is the prevalence of Klinefelter syndrome increasing?

MORRIS, Joan K ; ALBERMAN, Eva ; SCOTT, Claire ; JACOBS, Patricia

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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2
Triple X syndrome: a review of the literature
Triple X syndrome: a review of the literature
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Triple X syndrome: a review of the literature

OTTER, Maarten ; SCHRANDER-STUMPEL, Constance T. R. M ; CURFS, Leopold M. G

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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3
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

BOYD, Patricia Anne ; LOANE, Maria ; GARNE, Ester ; KHOSHNOOD, Babak ; DOLK, Helen

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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4
Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets
Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets
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Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

JOSTINS, Luke ; MORLEY, Katherine I ; BARRETT, Jeffrey C

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.662-666 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

VAN OPSTAL, Diane ; BOTER, Marjan ; DE JONG, Danielle ; VAN DEN BERG, Cardi ; BRÜGGENWIRTH, Hennie T ; WILDSCHUT, Hajo I. J ; DE KLEIN, Annelies ; GALJAARD, Robert-Jan H

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.112-121 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
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Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses

FORABOSCO, Antonino ; PERCESEPE, Antonio ; SANTUCCI, Sandra

European journal of human genetics : EJHG, 2009-07, Vol.17 (7), p.897-903 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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7
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

SREBNIAK, Malgorzata ; BOTER, Marjan ; OUDESLUIJS, Grétel ; JOOSTEN, Marieke ; GOVAERTS, Lutgarde ; OPSTAL, Diane Van ; GALJAARD, Robert-Jan H

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1230-1237 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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8
Non-invasive prenatal testing: ethical issues explored
Non-invasive prenatal testing: ethical issues explored
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Non-invasive prenatal testing: ethical issues explored

DE JONG, Antina ; DONDORP, Wybo J ; DE DIE-SMULDERS, Christine E. M ; FRINTS, Suzanne G. M ; DE WERT, Guido M. W. R

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.272-277 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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9
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
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Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

WELLESLEY, Diana ; DOLK, Helen ; MULLANEY, Carmel ; CALZOLARI, Elisa ; BAKKER, Marian ; SALVADOR, Joaquin ; ADDOR, Marie-Claude ; DRAPER, Elizabeth ; RANKIN, Judith ; TUCKER, David ; BOYD, Patricia A ; GREENLEES, Ruth ; HAEUSLER, Martin ; NELEN, Vera ; GARNE, Ester ; KHOSHNOOD, Babak ; DORAY, Berenice ; RISSMANN, Anke

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.521-526 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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10
The phenotype of recurrent 10q22q23 deletions and duplications
The phenotype of recurrent 10q22q23 deletions and duplications
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The phenotype of recurrent 10q22q23 deletions and duplications

VAN BON, Bregje Wm ; BALCIUNIENE, Jorune ; IRONS, Mira ; POTOCKI, Lorraine ; LEE, Brendan ; SAU WAICHEUNG ; PATEL, Ankita ; BELLINI, Melissa ; SELICORNI, Angelo ; CICCONE, Roberto ; SILENGO, Margherita ; VETRO, Annalisa ; FRUHMAN, Gary ; KNOERS, Nine V ; DE LEEUW, Nicole ; PFUNDT, Rolph ; WOLF, Barry ; JIRA, Petr ; ARADHYA, Swaroop ; STANKIEWICZ, Pawel ; BRUNNER, Hang ; ZUFFARDI, Orsetta ; SELLECK, Scottb ; SANDESH CHAKRAVARTHY SREENATH NAGAMANI ; LUPSKI, James R ; DE VRIES, Bert Ba ; BROOME, Diane L ; CAMERON, Elizabeth ; MARTINET, Danielle ; ROULET, Eliane ; JACQUEMONT, Sebastien ; BECKMANN, Jacquess

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.400-408 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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