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Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

Clinical genetics, 2013-07, Vol.84 (1), p.78-81

2013

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Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

Prenatal diagnosis, 2011-05, Vol.31 (5), p.500-508

2011

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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Journal of medical genetics, 2009-12, Vol.46 (12), p.847-855

2009

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Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

Human reproduction (Oxford), 2006-09, Vol.21 (9), p.2329-2334

2006

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Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?

Leukemia, 2005-08, Vol.19 (8), p.1411-1415

2005

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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

European journal of medical genetics, 2009-09, Vol.52 (5), p.328-332

2009

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3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

Clinical genetics, 2012-08, Vol.82 (2), p.187-192

2012

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Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.208-213

2013

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Terminal 14q32.33 deletion: Genotype–phenotype correlation

American journal of medical genetics. Part A, 2006-11, Vol.140A (21), p.2324-2329

2006

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Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report

Human reproduction (Oxford), 2005-08, Vol.20 (8), p.2168-2172

2005

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Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

American journal of medical genetics. Part A, 2007-04, Vol.143A (7), p.727-733

2007

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Prenatal Diagnosis of 18q-Syndrome: A Case of Fetal Mosaicism with a Normal Karyotype in Chorionic Villi

Fetal diagnosis and therapy, 2010-10, Vol.28 (3), p.180-185

2010

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In-situ structural health monitoring of glass fiber reinforced composites by tufted reinforcement

IOP conference series. Materials Science and Engineering, 2018-09, Vol.406 (1), p.12058

2018

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Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15

Prenatal diagnosis, 2003-11, Vol.23 (11), p.938-943

2003

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Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

Prenatal diagnosis, 2007-03, Vol.27 (3), p.279-284

2007

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De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern

American journal of medical genetics, 2004-12, Vol.131A (3), p.273-280

2004

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In-situ XRD on formation reactions of Cu2ZnSnS4 thin films

Physica status solidi. C, 2009-05, Vol.6 (5), p.1245-1248

2009

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Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

Journal of medical genetics, 2003-01, Vol.40 (1), p.e6-6

2003

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Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies

Prenatal diagnosis, 2001-08, Vol.21 (8), p.613-618

2001

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Kesterite absorber layer uniformity from electrodeposited pre-cursors

Physica status solidi. C, 2009-05, Vol.6 (5), p.1241-1244

2009

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Photoluminescence and time‐resolved photoluminescence in Cu(In,Ga)Se 2 thin films and solar cells

Physica status solidi. C, 2009-01, Vol.6 (5), p.1059-1062

2009

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Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

Prenatal diagnosis, 2002-08, Vol.22 (8), p.652-655

2002

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Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature

Clinical genetics, 2002-02, Vol.61 (2), p.163-165

2002

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Electronic structure of stannite-type Cu2ZnSnSe4 by first principles calculations

Physica status solidi. C, 2009-05, Vol.6 (5), p.1261-1265

2009

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Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

Terminal 14q32.33 deletion: Genotype–phenotype correlation

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

Prenatal Diagnosis of 18q-Syndrome: A Case of Fetal Mosaicism with a Normal Karyotype in Chorionic Villi

In-situ structural health monitoring of glass fiber reinforced composites by tufted reinforcement

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern

In-situ XRD on formation reactions of Cu2ZnSnS4 thin films

Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies

Kesterite absorber layer uniformity from electrodeposited pre-cursors

Photoluminescence and time‐resolved photoluminescence in Cu(In,Ga)Se 2 thin films and solar cells

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature

Electronic structure of stannite-type Cu2ZnSnSe4 by first principles calculations

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