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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Journal of medical genetics, 2009-06, Vol.46 (6), p.382-388

2009

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.590-597

2003

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20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Journal of medical genetics, 2009-03, Vol.46 (3), p.168-175

2009

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Journal of medical genetics, 2000-06, Vol.37 (6), p.428-433

2000

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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Human genetics, 2001-11, Vol.109 (5), p.535-541

2001

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Strength and failure of a damaged material

EPJ Web of Conferences, 2015, Vol.94, p.2015

2015

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A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster

Genome research, 2001-06, Vol.11 (6), p.1114-1125

2001

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Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

Journal of medical genetics, 2003-11, Vol.40 (11), p.854-857

2003

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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

Human molecular genetics, 2003-08, Vol.12 (15), p.1823-1837

2003

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Congenital diaphragmatic hernia in WAGR syndrome

American journal of medical genetics. Part A, 2005-05, Vol.134A (4), p.430-433

2005

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Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.440

2022

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Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Genetics in medicine, 2012, Vol.14 (1), p.163-167

2012

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Cardiovascular findings in duplication 17p11.2 syndrome

Genetics in medicine, 2012-01, Vol.14 (1), p.90-94

2012

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Nature genetics, 2000-01, Vol.24 (1), p.84-87

2000

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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

Clinical genetics, 2001-11, Vol.60 (5), p.336-344

2001

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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Human genetics, 2004-11, Vol.115 (6), p.515-524

2004

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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Genetics in medicine, 2003-11, Vol.5 (6), p.430-434

2003

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Nature genetics, 1997-10, Vol.17 (2), p.154-163

1997

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Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

American journal of human genetics, 2000-11, Vol.67 (5), p.1327-1332

2000

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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

Genome research, 2002-05, Vol.12 (5), p.713-728

2002

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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.528-540

2005

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Central nervous system malformations in oral-facial-digital syndrome, type 1

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.218-218

2005

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Mechanical behavior and strength in spalled copper

AIP Conference Proceedings, 2017, Vol.1793 (1)

2017

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Application of IGF2 - Specific Identifier Probe for Cytogenetic Study of Somatic and Sperm Cells in Horses

Folia biologica (Kraków), 2011-01, Vol.59 (3), p.147-149

2011

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Strength and failure of a damaged material

A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

Congenital diaphragmatic hernia in WAGR syndrome

Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

Cardiovascular findings in duplication 17p11.2 syndrome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Central nervous system malformations in oral-facial-digital syndrome, type 1

Mechanical behavior and strength in spalled copper

Application of IGF2 - Specific Identifier Probe for Cytogenetic Study of Somatic and Sperm Cells in Horses

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