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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Prenatal diagnosis, 2005-11, Vol.25 (11), p.1032-1039

2005

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Intramolecularly Stabilised Group 10 Metal Stannyl and Stannylene Complexes: Multi-pathway Synthesis and Observation of Platinum-to-Tin Alkyl Transfer

Chemistry : a European journal, 2015-01, Vol.21 (4), p.1765-1779

2015

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Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Clinical genetics, 2002-12, Vol.62 (6), p.482-487

2002

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Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Prenatal diagnosis, 2005-02, Vol.25 (2), p.151-155

2005

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Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques

Prenatal diagnosis, 2003-09, Vol.23 (9), p.747-751

2003

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Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12)

Prenatal diagnosis, 2003-01, Vol.23 (1), p.65-67

2003

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Intramolecularly Stabilised Group10 Metal Stannyl and Stannylene Complexes: Multi-pathway Synthesis and Observation of Platinum-to-Tin Alkyl Transfer

Chemistry : a European journal, 2015-01, Vol.21 (4), p.1765-1779

2015

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Misleading variant chromosome 12 in prenatal diagnosis

Prenatal diagnosis, 2006-06, Vol.26 (6), p.587-588

2006

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Unique mosaicism of structural chromosomal rearrangement: Is chromosome 18 preferentially involved?

American journal of medical genetics. Part A, 2003-05, Vol.119A (1), p.26-31

2003

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First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

Prenatal diagnosis, 2000-06, Vol.20 (6), p.520-521

2000

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Trisomy 8 in chorionic villi-unpredictable results in follow-up

Prenatal diagnosis, 2000-05, Vol.20 (5), p.435-437

2000

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MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

Prenatal diagnosis, 1997-01, Vol.17 (1), p.81-86

1997

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PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION

Prenatal diagnosis, 1997-02, Vol.17 (2), p.173-179

1997

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Multiphase Systems for the Recycling of Alkoxycarbonylation Catalysts

Advanced synthesis & catalysis, 2006-08, Vol.348 (12-13), p.1447-1458

2006

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Abnormal Chromosome 18 in prenatal diagnosis with holoprosencephaly

Prenatal diagnosis, 1997-09, Vol.17 (9), p.887-888

1997

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Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Clinical genetics, 1985-05, Vol.27 (5), p.515-519

1985

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Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]

American journal of medical genetics, 1993-09, Vol.47 (4), p.559-562

1993

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The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases

American journal of medical genetics, 1988-08, Vol.30 (4), p.883-904

1988

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Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes

American journal of medical genetics, 1986-01, Vol.23 (1-2), p.221-226

1986

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PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION

Prenatal diagnosis, 1997-02, Vol.17 (2), p.173-179

1997

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Abnormal chromosome 18 in prenatal diagnosis with holoprosencephaly

Prenatal diagnosis, 1997, Vol.17 (9), p.887-888

1997

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Phosphine in the Venusian Atmosphere: A Strict Upper Limit from SOFIA GREAT Observations

Geophysical research letters, 2022-11, Vol.49 (22), p.n/a

2022

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A new short rib syndrome: Report of two cases

American journal of medical genetics, 1983-01, Vol.14 (1), p.115-123

1983

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Truncated CSF3 receptors induce pro‐inflammatory responses in severe congenital neutropenia

British journal of haematology, 2023-01, Vol.200 (1), p.79-86

2023

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First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

Prenatal diagnosis, 2000, Vol.20 (6), p.520-521

2000

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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Intramolecularly Stabilised Group 10 Metal Stannyl and Stannylene Complexes: Multi-pathway Synthesis and Observation of Platinum-to-Tin Alkyl Transfer

Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques

Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12)

Intramolecularly Stabilised Group10 Metal Stannyl and Stannylene Complexes: Multi-pathway Synthesis and Observation of Platinum-to-Tin Alkyl Transfer

Misleading variant chromosome 12 in prenatal diagnosis

Unique mosaicism of structural chromosomal rearrangement: Is chromosome 18 preferentially involved?

First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

Trisomy 8 in chorionic villi-unpredictable results in follow-up

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION

Multiphase Systems for the Recycling of Alkoxycarbonylation Catalysts

Abnormal Chromosome 18 in prenatal diagnosis with holoprosencephaly

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]

The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION

Abnormal chromosome 18 in prenatal diagnosis with holoprosencephaly

Phosphine in the Venusian Atmosphere: A Strict Upper Limit from SOFIA GREAT Observations

A new short rib syndrome: Report of two cases

Truncated CSF3 receptors induce pro‐inflammatory responses in severe congenital neutropenia

First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

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