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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Human genetics, 2011-10, Vol.130 (4), p.517-528

2011

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Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy

Prenatal diagnosis, 2018-11, Vol.38 (12), p.920-923

2018

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Expression of the Bs2 pepper gene confers resistance to bacterial spot disease in tomato

Proceedings of the National Academy of Sciences - PNAS, 1999-11, Vol.96 (24), p.14153-14158

1999

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Clinical Comparison of Overlapping Deletions of 19p13.3

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1110-1116

2013

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Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

Biochemical and biophysical research communications, 2006-01, Vol.339 (3), p.755-760

2006

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UPD detection using homozygosity profiling with a SNP genotyping microarray

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.757-768

2011

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PATH-45. CLINICAL UTILITY OF COMBINED NEXT GENERATION SEQUENCING AND CHROMOSOMAL MICROARRAY ANALYSIS FOR THE DIAGNOSIS AND MANAGEMENT OF ADULT GLIOMAS

Neuro-oncology (Charlottesville, Va.), 2020-11, Vol.22 (Supplement_2), p.ii174-ii174

2020

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80: Chromosomal microarray analysis of over 45,000 prenatal patients: Significance and efficacy as a first tier diagnostic test

American journal of obstetrics and gynecology, 2018-01, Vol.218 (1), p.S58-S59

2018

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1 - Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Cancer genetics, 2016-05, Vol.209 (5), p.229-229

2016

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Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1755-1758

2013

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Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Cancer genetics, 2016-05, Vol.209 (5), p.248-248

2016

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Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Cancer genetics, 2016-05, Vol.209 (5), p.229-229

2016

Volltextzugriff (PDF)

59 - Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Cancer genetics, 2016-05, Vol.209 (5), p.248-248

2016

Volltextzugriff (PDF)

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2152-2161

2012

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Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Cancer genetics, 2016-05, Vol.209 (5), p.233-234

2016

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13 - Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Cancer genetics, 2016-05, Vol.209 (5), p.233-234

2016

Volltextzugriff (PDF)

Congenital disorder of glycosylation Ic due to a de novo deletion and an h ALG-6 mutation

Biochemical and biophysical research communications, 2006, Vol.339 (3), p.755-760

2006

Volltextzugriff (PDF)

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy

Expression of the Bs2 pepper gene confers resistance to bacterial spot disease in tomato

Clinical Comparison of Overlapping Deletions of 19p13.3

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

UPD detection using homozygosity profiling with a SNP genotyping microarray

PATH-45. CLINICAL UTILITY OF COMBINED NEXT GENERATION SEQUENCING AND CHROMOSOMAL MICROARRAY ANALYSIS FOR THE DIAGNOSIS AND MANAGEMENT OF ADULT GLIOMAS

80: Chromosomal microarray analysis of over 45,000 prenatal patients: Significance and efficacy as a first tier diagnostic test

1 - Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

59 - Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

13 - Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Congenital disorder of glycosylation Ic due to a de novo deletion and an h ALG-6 mutation

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