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Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

Human molecular genetics, 2009-06, Vol.18 (11), p.1909-1923

2009

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SEMA3E mutation in a patient with CHARGE syndrome

Journal of medical genetics, 2004-07, Vol.41 (7), p.e94-e94

2004

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Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

American journal of human genetics, 2006-02, Vol.78 (2), p.303-314

2006

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Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

The New England journal of medicine, 1990-02, Vol.322 (5), p.291-296

1990

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Linkage disequilibrium, cystic fibrosis, and genetic counseling

American journal of human genetics, 1989-03, Vol.44 (3), p.319-326

1989

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease

Pediatrics (Evanston), 2004-10, Vol.114 (4), p.925

2004

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Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared

Clinical chemistry (Baltimore, Md.), 1988-05, Vol.34 (5), p.933

1988

Volltextzugriff (PDF)

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Circulation (New York, N.Y.), 2005-11, Vol.112 (18), p.2799-2804

2005

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Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency

The Journal of pediatrics, 1989-04, Vol.114 (4), p.582-588

1989

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Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

Human genetics, 1987-05, Vol.76 (1), p.5-10

1987

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Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

Circulation (New York, N.Y.), 2005-09, Vol.112 (11), p.1612-1617

2005

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Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk

American journal of medical genetics, 1989-06, Vol.33 (2), p.238-241

1989

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SNP genotyping to screen for a common deletion in CHARGE syndrome

BMC medical genetics, 2005-02, Vol.6 (1), p.8-8, Article 8

2005

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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

American journal of medical genetics. Part A, 2003-04, Vol.118A (3), p.260-266

2003

Volltextzugriff (PDF)

Molecular genetic technology in cystic fibrosis: implications for nursing practice

Journal of pediatric nursing, 1992-02, Vol.7 (1), p.20-25

1992

Volltextzugriff (PDF)

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 risk

American journal of medical genetics, 1989-06, Vol.33 (2), p.238-241

1989

Volltextzugriff (PDF)

Navigating by the Stars: Investigating the Actual and Perceived Validity of Online User Ratings

The Journal of consumer research, 2016-04, Vol.42 (6), p.817-833

2016

Volltextzugriff (PDF)

A Quantitative Causal Model Theory of Conditional Reasoning

Journal of experimental psychology. Learning, memory, and cognition, 2013-09, Vol.39 (5), p.1327-1343

2013

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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Human molecular genetics, 2009-03, Vol.18 (5), p.861-871

2009

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Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3021-3026

2014

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The effect of visual target presence and age on antisaccade performance

Journal of neurophysiology, 2023-02, Vol.129 (2), p.307-319

2023

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Longitudinal Effects of Breast Cancer Treatment on Neural Correlates of Attention

Archives of clinical neuropsychology, 2023-01, Vol.38 (1), p.12-24

2023

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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Human molecular genetics, 2013-11, Vol.22 (21), p.4339-4348

2013

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Genome medicine, 2017-10, Vol.9 (1), p.95-95, Article 95

2017

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Bacteremia in Febrile, Non-neutropenic, and Well-appearing Children With Cancer

Journal of pediatric hematology/oncology, 2022-01, Vol.44 (1), p.e194

2022

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Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

SEMA3E mutation in a patient with CHARGE syndrome

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

Linkage disequilibrium, cystic fibrosis, and genetic counseling

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease

Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk

SNP genotyping to screen for a common deletion in CHARGE syndrome

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

Molecular genetic technology in cystic fibrosis: implications for nursing practice

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 risk

Navigating by the Stars: Investigating the Actual and Perceived Validity of Online User Ratings

A Quantitative Causal Model Theory of Conditional Reasoning

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions

The effect of visual target presence and age on antisaccade performance

Longitudinal Effects of Breast Cancer Treatment on Neural Correlates of Attention

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Bacteremia in Febrile, Non-neutropenic, and Well-appearing Children With Cancer

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