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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1196-1201

2010

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Ocular Drug Delivery Targeting the Retina and Retinal Pigment Epithelium Using Polylactide Nanoparticles

Investigative ophthalmology & visual science, 2003-08, Vol.44 (8), p.3562-3569

2003

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The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-11, Vol.145C (4), p.335-345

2007

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Detection of low-level mosaicism by array CGH in routine diagnostic specimens

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2757-2767

2006

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Genetics in medicine, 2007-09, Vol.9 (9), p.607-616

2007

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Clinical utility of contemporary molecular cytogenetics

Annual review of genomics and human genetics, 2008-01, Vol.9 (1), p.71-86

2008

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Nature genetics, 2007-09, Vol.39 (9), p.1071-1073

2007

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Clinical genetics, 2008-11, Vol.74 (5), p.469-475

2008

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Molecular cytogenetics, 2008-04, Vol.1 (1), p.8-8, Article 8

2008

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus

Human molecular genetics, 2000-02, Vol.9 (3), p.367-374

2000

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Expanding the phenotype of alveolar capillary dysplasia (ACD)

The Journal of pediatrics, 2004-11, Vol.145 (5), p.646-651

2004

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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Genetics in medicine, 2011-10, Vol.13 (10), p.868-880

2011

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Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review

Annals of pediatric surgery, 2022-06, Vol.18 (1), p.1-6, Article 36

2022

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Genetics in medicine, 2012-10, Vol.14 (10), p.868-876

2012

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Simultaneous quantification of amoxicillin and potassium clavulanate in different commercial drugs using PIXE technique

Nuclear instruments & methods in physics research. Section B, Beam interactions with materials and atoms, 2016-03, Vol.371, p.392-395

2016

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Array comparative genomic hybridization in global developmental delay

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-10, Vol.147B (7), p.1101-1108

2008

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Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

American journal of human genetics, 1998-02, Vol.62 (2), p.325-333

1998

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Medical applications of array CGH and the transformation of clinical cytogenetics

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.303-309

2006

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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Human molecular genetics, 2009-04, Vol.18 (8), p.1377-1383

2009

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Essays on "The Soul's Logical Life" in the Work of Wolfgang Giegerich: Psychology as the Discipline of Interiority

1, 2024

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Novel ‘heavy’ dyes for retinal membrane staining during macular surgery: multicenter clinical assessment

Acta ophthalmologica (Oxford, England), 2014-06, Vol.92 (4), p.339-344

2014

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Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.259-267

2005

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Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Molecular cytogenetics, 2010-06, Vol.3 (1), p.11-11, Article 11

2010

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Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

Investigative ophthalmology & visual science, 2015-12, Vol.56 (13), p.7687-7690

2015

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A cytogeneticist’s perspective on genomic microarrays

Human reproduction update, 2004-05, Vol.10 (3), p.221-226

2004

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

Ocular Drug Delivery Targeting the Retina and Retinal Pigment Epithelium Using Polylactide Nanoparticles

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Clinical utility of contemporary molecular cytogenetics

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus

Expanding the phenotype of alveolar capillary dysplasia (ACD)

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Simultaneous quantification of amoxicillin and potassium clavulanate in different commercial drugs using PIXE technique

Array comparative genomic hybridization in global developmental delay

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

Medical applications of array CGH and the transformation of clinical cytogenetics

Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Essays on "The Soul's Logical Life" in the Work of Wolfgang Giegerich: Psychology as the Discipline of Interiority

Novel ‘heavy’ dyes for retinal membrane staining during macular surgery: multicenter clinical assessment

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

A cytogeneticist’s perspective on genomic microarrays

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