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The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes

Translational psychiatry, 2015-05, Vol.5 (5), p.e568-e568

2015

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Genome-wide association study of recurrent early-onset major depressive disorder

Molecular psychiatry, 2011-02, Vol.16 (2), p.193-201

2011

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A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

American journal of human genetics, 2000-07, Vol.67 (1), p.37-46

2000

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Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome

Translational psychiatry, 2013-10, Vol.3 (10), p.e316-e316

2013

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Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study

Molecular psychiatry, 2011-01, Vol.16 (1), p.108-120

2011

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

Annals of neurology, 2001-02, Vol.49 (2), p.245-249

2001

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

Human genetics, 2004-05, Vol.114 (6), p.527-533

2004

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Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

Clinical genetics, 2001-12, Vol.60 (6), p.476-478

2001

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Compound Heterozygous Deletion of the PROP-1 Gene in Children with Combined Pituitary Hormone Deficiency

The journal of clinical endocrinology and metabolism, 1998-07, Vol.83 (7), p.2601-2604

1998

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Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Nature genetics, 1993-12, Vol.5 (4), p.338-343

1993

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Nature genetics, 1993-12, Vol.5 (4), p.344-350

1993

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P26.23: The termination of pregnancy under ultrasound control in cases of bilateral renal agenesis, multicystic dysplasia and infantile polycystic disease

Ultrasound in obstetrics & gynecology, 2007-10, Vol.30 (4), p.552-552

2007

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Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis

American journal of human genetics, 1997-05, Vol.60 (5), p.1174-1183

1997

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

Nature genetics, 2002-03, Vol.30 (3), p.335-341

2002

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

European journal of human genetics : EJHG, 2001-08, Vol.9 (8), p.646-650

2001

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Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth Neuropathy Patients

Human mutation, 2000-01, Vol.15 (4), p.340-347

2000

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Targeting β-catenin/CBP interaction in breast cancer

Journal of clinical oncology, 2011-05, Vol.29 (15_suppl), p.10516-10516

2011

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A Third-Pass Genome Scan in Panic Disorder: Evidence for Multiple Susceptibility Loci

Biological psychiatry (1969), 2006-08, Vol.60 (4), p.388-401

2006

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Olfactory neuroepithelium-derived neural progenitor cells as a model system for investigating the molecular mechanisms of neuropsychiatric disorders

Psychiatric genetics, 2011-10, Vol.21 (5), p.217-228

2011

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GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children

Bulletin of experimental biology and medicine, 2006-03, Vol.141 (3), p.347-352

2006

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COMBINED ACTIVE AND PASSIVE KINESIOTHERAPY IN REHABILITATION AFTER COVID-19 OF VARYING SEVERITY

The Bulletin of Contemporary Clinical Medicine, 2024-08, p.117-126

2024

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COMBINED ACTIVE AND PASSIVE KINESIOTHERAPY IN REHABILITATION AFTER COVID-19 OF VARYING SEVERITY

The Bulletin of Contemporary Clinical Medicine, 2024-08, Vol.17 (4), p.117-126

2024

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Bacterial β-galactosidase and human dystrophin genes are expressed in mouse skeletal muscle fibers after ballistic transfection

FEBS letters, 1997-09, Vol.414 (2), p.319-322

1997

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BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy

American journal of human genetics, 2003-08, Vol.73 (2), p.261-270

2003

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Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

American journal of human genetics, 1997-08, Vol.61 (2), p.317-328

1997

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The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes

Genome-wide association study of recurrent early-onset major depressive disorder

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome

Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

Compound Heterozygous Deletion of the PROP-1 Gene in Children with Combined Pituitary Hormone Deficiency

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

P26.23: The termination of pregnancy under ultrasound control in cases of bilateral renal agenesis, multicystic dysplasia and infantile polycystic disease

Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth Neuropathy Patients

Targeting β-catenin/CBP interaction in breast cancer

A Third-Pass Genome Scan in Panic Disorder: Evidence for Multiple Susceptibility Loci

Olfactory neuroepithelium-derived neural progenitor cells as a model system for investigating the molecular mechanisms of neuropsychiatric disorders

GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children

COMBINED ACTIVE AND PASSIVE KINESIOTHERAPY IN REHABILITATION AFTER COVID-19 OF VARYING SEVERITY

COMBINED ACTIVE AND PASSIVE KINESIOTHERAPY IN REHABILITATION AFTER COVID-19 OF VARYING SEVERITY

Bacterial β-galactosidase and human dystrophin genes are expressed in mouse skeletal muscle fibers after ballistic transfection

BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy

Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

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