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Tumor-Infiltrating Macrophages in Post-Transplant, Relapsed Classical Hodgkin Lymphoma Are Donor-Derived

PloS one, 2016-09, Vol.11 (9), p.e0163559-e0163559

2016

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The impact of chromosomal microarray on clinical management: a retrospective analysis

Genetics in medicine, 2014-09, Vol.16 (9), p.657-664

2014

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Cytopathologic features of mammary analogue secretory carcinoma

Cancer cytopathology, 2013-05, Vol.121 (5), p.228-233

2013

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Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2702-2706

2015

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Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1147-1151

2015

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3q29 interstitial microduplication: A new syndrome in a three-generation family

American journal of medical genetics. Part A, 2008-03, Vol.146A (5), p.601-609

2008

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3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

European journal of medical genetics, 2009-09, Vol.52 (5), p.349-352

2009

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Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: Search for recurrent chromosome abnormalities

Genes chromosomes & cancer, 2006-04, Vol.45 (4), p.383-391

2006

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Nature communications, 2014-03, Vol.5 (1), p.3416-3416, Article 3416

2014

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Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

Journal of cystic fibrosis, 2016-05, Vol.15 (3), p.285-294

2016

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Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status

Modern pathology, 2014-04, Vol.27 (4), p.562-568

2014

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Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2293-2297

2008

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The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-6

2015

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Genetic Profiling by Single-Nucleotide Polymorphism-Based Array Analysis Defines Three Distinct Subtypes of Orbital Meningioma

Brain pathology (Zurich, Switzerland), 2015-03, Vol.25 (2), p.193-201

2015

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Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Pediatric neurology, 2007-10, Vol.37 (4), p.299-302

2007

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Mosaic trisomy 13: understanding origin using SNP array

Journal of medical genetics, 2011-05, Vol.48 (5), p.323-326

2011

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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

European journal of medical genetics, 2010-03, Vol.53 (2), p.93-99

2010

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First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Case reports in genetics, 2013-01, Vol.2013 (2013), p.1-3

2013

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Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis

The Journal of molecular diagnostics : JMD, 2011-09, Vol.13 (5), p.541-548

2011

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An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1318-1321

2010

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Acute mixed lineage leukemia and a t(6;14)(q25;q32) in two adults

Cancer genetics and cytogenetics, 2008-08, Vol.185 (1), p.28-31

2008

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Targeted Pathologic Evaluation of Bone Marrow Donors Identifies Previously Undiagnosed Marrow Abnormalities

Biology of blood and marrow transplantation, 2013-08, Vol.19 (8), p.1254-1259

2013

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Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation

Journal of medical genetics, 2011, Vol.48 (5), p.323-326

2011

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An Unbalanced Translocation between Chromosomes 2p and 6p Associated With Axenfeld—Rieger Anomaly ype 3, Hearing Loss, Developmental Delay, and Distinct Facial Dysmorphism

American journal of medical genetics. Part A, 2010, Vol.152 (5), p.1318-1321

2010

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Tumor-Infiltrating Macrophages in Post-Transplant, Relapsed Classical Hodgkin Lymphoma Are Donor-Derived

The impact of chromosomal microarray on clinical management: a retrospective analysis

Cytopathologic features of mammary analogue secretory carcinoma

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

3q29 interstitial microduplication: A new syndrome in a three-generation family

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: Search for recurrent chromosome abnormalities

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

Genetic Profiling by Single-Nucleotide Polymorphism-Based Array Analysis Defines Three Distinct Subtypes of Orbital Meningioma

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Mosaic trisomy 13: understanding origin using SNP array

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis

An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism

A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21

Acute mixed lineage leukemia and a t(6;14)(q25;q32) in two adults

Targeted Pathologic Evaluation of Bone Marrow Donors Identifies Previously Undiagnosed Marrow Abnormalities

Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation

An Unbalanced Translocation between Chromosomes 2p and 6p Associated With Axenfeld—Rieger Anomaly ype 3, Hearing Loss, Developmental Delay, and Distinct Facial Dysmorphism

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