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Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor

American journal of medical genetics, 2004-11, Vol.131A (1), p.11-17

2004

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100735-100735, Article 100735

2021

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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

European journal of human genetics : EJHG, 2010-10, Vol.18 (10), p.1100-1106

2010

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BMJ open, 2016-04, Vol.6 (4), p.e009537-e009537

2016

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Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia

Journal of Perinatology, 2005-05, Vol.25 (5), p.356-358

2005

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Congenital Glucose–Galactose Malabsorption: A Case Report

Journal of pediatric health care, 2017-07, Vol.31 (4), p.506-510

2017

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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.870-874

2011

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Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2100-2105

2012

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Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case

Journal of child neurology, 2018-10, Vol.33 (12), p.784-787

2018

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Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome

Advances in neonatal care, 2015-08, Vol.15 (4), p.274

2015

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1956-1963

2018

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When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex

Neonatal network, 2013-07, Vol.32 (4), p.262

2013

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8 Genetic counseling in the neuronal ceroid lipofuscinoses

Advances in Genetics, 2001, Vol.45, p.159-167

Sklower Brooks, Susan

2001

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Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia

Neurobiology of aging, 2006-07, Vol.27 (7), p.941-945

2006

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Specific substrate for CLN2 proteaseltripeptidylpeptidaseI assay

European journal of paediatric neurology, 2001, Vol.5, p.63-68

2001

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Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

American journal of human genetics, 1999-06, Vol.64 (6), p.1511-1523

1999

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New mutations in the RAB3GAP1 gene in patients with Warburg MICRO Syndrome and a possible founder effect in the Danish population

European journal of human genetics : EJHG, 2010-05

2010

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Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test

JAMA : the journal of the American Medical Association, 1993-10, Vol.270 (13), p.1569

1993

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Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

Clinical dysmorphology, 2007-07, Vol.16 (3), p.135

2007

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P3-010 Telomere shortening and dementia in older individuals with down syndrome

Neurobiology of aging, 2004-07, Vol.25, p.S354-S354

2004

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The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

American journal of human genetics, 1998-04, Vol.62 (4), p.991-994

1998

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A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis

Clinica chimica acta, 1999-03, Vol.281 (1), p.169-176

1999

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Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis

Clinical genetics, 1998-09, Vol.54 (3), p.234-238

1998

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Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene

Human genetics, 1998-01, Vol.102 (1), p.57-62

1998

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Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia

Congenital Glucose–Galactose Malabsorption: A Case Report

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case

Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex

8 Genetic counseling in the neuronal ceroid lipofuscinoses

Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia

Specific substrate for CLN2 proteaseltripeptidylpeptidaseI assay

Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

New mutations in the RAB3GAP1 gene in patients with Warburg MICRO Syndrome and a possible founder effect in the Danish population

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

P3-010 Telomere shortening and dementia in older individuals with down syndrome

The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis

Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene

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