UB Paderborn / Katalog / Suche / in CDI

Meridional Circulation of Dust and Gas in the Circumstellar Disk: Delivery of Solids onto the Circumplanetary Region

The Astrophysical journal, 2022-01, Vol.924 (1), p.1

2022

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Molecular studies of chromosomal mosaicism : relative frequency of chromosome gain or loss and possible role of cell selection

American journal of human genetics, 1995-02, Vol.56 (2), p.444-451

1995

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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Journal of medical genetics, 2000-04, Vol.37 (4), p.281-286

2000

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Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities

BJOG : an international journal of obstetrics and gynaecology, 1996-10, Vol.103 (10), p.1009-1014

1996

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Clinical and molecular analysis of five inv dup(15) patients

European journal of human genetics : EJHG, 1993, Vol.1 (1), p.37-50

1993

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Intrachromosomal triplication of 15q11-q13

Journal of medical genetics, 1994-10, Vol.31 (10), p.798-803

1994

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Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

Pediatric surgery international, 2000-03, Vol.16 (3), p.226-228

2000

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Parental origin and mechanisms of formation of triploidy: a study of 25 cases

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917

2000

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An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features

Clinical dysmorphology, 1994-01, Vol.3 (1), p.63-69

1994

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Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus

Clinical dysmorphology, 1995-01, Vol.4 (1), p.25-32

1995

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Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype

Journal of medical genetics, 1991-05, Vol.28 (5), p.352-355

1991

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Multiple origins of X chromosome tetrasomy

Journal of medical genetics, 1994-05, Vol.31 (5), p.424-425

1994

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Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996

Swiss medical weekly, 2002-08, Vol.132 (33-34), p.478

2002

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Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

American journal of human genetics, 1991-12, Vol.49 (6), p.1219-1234

1991

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Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.140-144

1998

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Molecular study of 45,X conceptuses: Correlation with clinical findings

American journal of medical genetics, 1992-02, Vol.42 (4), p.487-490

1992

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Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.873-883

1999

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Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11)

Human heredity, 1990, Vol.40 (2), p.81

1990

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Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases

Prenatal diagnosis, 2002-09, Vol.22 (9), p.835-836

2002

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The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms

American journal of human genetics, 1992-03, Vol.50 (3), p.544-550

1992

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Prenatal chromosome study: cause, incidence and prevention of erroneous determination of various study samples

Archives of gynecology and obstetrics, 1992, Vol.252 Suppl, p.S14-S21

Binkert, F

1992

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Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

Prenatal diagnosis, 1993-06, Vol.13 (6), p.513-518

1993

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Reduced recombination and paternal age effect in Klinefelter syndrome

Human genetics, 1992-07, Vol.89 (5), p.524-530

1992

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Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

Journal of medical genetics, 1997-12, Vol.34 (12), p.1012-1014

1997

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Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy

European journal of human genetics : EJHG, 1997-09, Vol.5 (5), p.308-314

1997

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Meridional Circulation of Dust and Gas in the Circumstellar Disk: Delivery of Solids onto the Circumplanetary Region

Molecular studies of chromosomal mosaicism : relative frequency of chromosome gain or loss and possible role of cell selection

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities

Clinical and molecular analysis of five inv dup(15) patients

Intrachromosomal triplication of 15q11-q13

Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features

Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype

Multiple origins of X chromosome tetrasomy

Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

Molecular study of 45,X conceptuses: Correlation with clinical findings

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11)

Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases

The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms

Prenatal chromosome study: cause, incidence and prevention of erroneous determination of various study samples

Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

Reduced recombination and paternal age effect in Klinefelter syndrome

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy

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