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5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

Journal of child neurology, 2010-10, Vol.25 (10), p.1232-1235

2010

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Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis

Seminars in pediatric neurology, 2014-06, Vol.21 (2), p.167-171

2014

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Microarray Analysis in Children With Developmental Disorder or Epilepsy

Pediatric neurology, 2010-12, Vol.43 (6), p.391-394

2010

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Brainstem Tegmental Necrosis and Olivary Hypoplasia: Raising Awareness of a Rare Neuropathologic Correlate of Congenital Apnea

Seminars in pediatric neurology, 2014-06, Vol.21 (2), p.177-183

2014

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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Transposition of the great arteries in a neonate with Klinefelter syndrome-An incidental finding or a true association

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.268-270

2015

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Absence of WNT4 gene mutation in a patient with MURCS association

Journal of Pediatric Endocrinology and Metabolism, 2014-05, Vol.27 (5-6), p.555

2014

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Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3187-3193

2014

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Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’

Journal of child neurology, 2011-05, Vol.26 (5), p.660-661

2011

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Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp

Pediatric Blood & Cancer, 2009-05, Vol.52 (5), p.650-652

2009

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A report of three patients with an interstitial deletion of chromosome 15q24

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.65-71

2005

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Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

American journal of medical genetics, 2003-08, Vol.121A (1), p.52-55

2003

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Prenatal zidovudine use and congenital anomalies in a medicaid population

Journal of acquired immune deficiency syndromes (1999), 2000-07, Vol.24 (3), p.249-256

2000

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Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2420-2430

2013

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Prenatal Zidovudine Use and Congenital Anomalies in a Medicaid Population

Journal of acquired immune deficiency syndromes (1999), 2000-07, Vol.24 (3), p.249-256

2000

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The natural history of euploid pregnancies with first-trimester cystic hygromas

American journal of obstetrics and gynecology, 1994-05, Vol.170 (5), p.1279-1284

1994

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The Gene for Bazex-Dupré-Christol Syndrome Maps to Chromosome Xq

Journal of investigative dermatology, 1995-07, Vol.105 (1), p.87-91

1995

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PATENT DUCTUS ARTERIOSUS AND VENTRICULAR SEPTAL DEFECT: TRENDS IN REPORTED FREQUENCY

American journal of epidemiology, 1978-04, Vol.107 (4), p.281-289

1978

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The natural history of euploid pregnancies with first -trimester cystic hygromas

American journal of obstetrics and gynecology, 1994-05, Vol.170 (5), p.1279-1284

1994

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Painful keratoderma and photophobia: Hallmarks of tyrosinemia type II

The Journal of pediatrics, 1995-02, Vol.126 (2), p.266-269

1995

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Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation

Journal of medical genetics, 1996-09, Vol.33 (9), p.793-794

1996

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Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases

Medical science monitor, 2001-05, Vol.7 (3), p.427-434

2001

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Biodistribution and Dosimetry of Indium-111-Polyclonal IgG in Normal Subjects

The Journal of nuclear medicine (1978), 1995-12, Vol.36 (12), p.2372-2379

1995

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HLA genotypic study of insulin-dependent diabetes the excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis

Diabetes (New York, N.Y.), 1983-02, Vol.32 (2), p.169-174

1983

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CLOSE GENETIC LINKAGE BETWEEN DIABETES MELLITUS AND KIDD BLOOD GROUP

The Lancet (British edition), 1981-10, Vol.318 (8252), p.893-895

1981

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5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis

Microarray Analysis in Children With Developmental Disorder or Epilepsy

Brainstem Tegmental Necrosis and Olivary Hypoplasia: Raising Awareness of a Rare Neuropathologic Correlate of Congenital Apnea

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Transposition of the great arteries in a neonate with Klinefelter syndrome-An incidental finding or a true association

Absence of WNT4 gene mutation in a patient with MURCS association

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’

Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp

A report of three patients with an interstitial deletion of chromosome 15q24

Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

Prenatal zidovudine use and congenital anomalies in a medicaid population

Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Prenatal Zidovudine Use and Congenital Anomalies in a Medicaid Population

The natural history of euploid pregnancies with first-trimester cystic hygromas

The Gene for Bazex-Dupré-Christol Syndrome Maps to Chromosome Xq

PATENT DUCTUS ARTERIOSUS AND VENTRICULAR SEPTAL DEFECT: TRENDS IN REPORTED FREQUENCY

The natural history of euploid pregnancies with first -trimester cystic hygromas

Painful keratoderma and photophobia: Hallmarks of tyrosinemia type II

Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation

Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases

Biodistribution and Dosimetry of Indium-111-Polyclonal IgG in Normal Subjects

HLA genotypic study of insulin-dependent diabetes the excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis

CLOSE GENETIC LINKAGE BETWEEN DIABETES MELLITUS AND KIDD BLOOD GROUP

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