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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Journal of medical genetics, 2012-07, Vol.49 (7), p.473-479

2012

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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

Clinical genetics, 2017-06, Vol.91 (6), p.929-931

2017

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.307-313

2005

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The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2814-2820

2017

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Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

Pediatrics (Evanston), 1999-03, Vol.103 (3), p.546-550

1999

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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Genetics in medicine, 2013-05, Vol.15 (5), p.399-407

2013

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Secondary Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to Detection of an Unbalanced Derivative Chromosome 12 by SNP Array Analysis

Cytogenetic and genome research, 2014-01, Vol.142 (2), p.129-133

2014

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Clinical variability of tetrasomy 12p

Clinical genetics, 1997-02, Vol.51 (2), p.102-108

1997

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Dementia pugilistica and cavum septi pellucidi : Born to box ?

Sports medicine (Auckland), 1997-12, Vol.24 (6), p.361-365

1997

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Linkage of a Human Brain Malformation, Familial Holoprosencephaly, to Chromosome 7 and Evidence for Genetic Heterogeneity

Proceedings of the National Academy of Sciences - PNAS, 1994-08, Vol.91 (17), p.8102-8106

1994

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Subtle Anomalies of the Septum Pellucidum and Neurodevelopmental Deficits

Developmental medicine and child neurology, 1994-06, Vol.36 (6), p.554-559

1994

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Hypoplasia of the cerebellar vermis in neurogenetic syndromes

Annals of neurology, 1996-03, Vol.39 (3), p.382-385

1996

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Evaluation of the Child with Idiopathic Mental Retardation

The Pediatric clinics of North America, 1992-08, Vol.39 (4), p.929-943

1992

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Transcriptional regulation of MMP-9 expression in stromal cells of human giant cell tumor of bone by tumor necrosis factor-alpha

International journal of oncology, 1999-02, Vol.14 (2), p.291

1999

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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

Genetics in medicine, 2008-01, Vol.10 (1), p.4-12

2008

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Postterm Closure of the Cavum Septi Pellucidi and Developmental Outcome in Premature Infants

Journal of child neurology, 2007-03, Vol.22 (3), p.314-316

2007

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Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans

Journal of child neurology, 1994-01, Vol.9 (1), p.47-49

1994

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Biological psychiatry (1969), 2020-01, Vol.87 (2), p.100-112

2020

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Does selection bias determine the prevalence of the cavum septi pellucidi?

Pediatric neurology, 1998-09, Vol.19 (3), p.195-198

1998

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Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome

Journal of medical genetics, 1994-08, Vol.31 (8), p.635-639

1994

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Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence

Journal of Pediatric Endocrinology and Metabolism, 2001-09, Vol.14 (8), p.1163-1168

2001

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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Genetics in medicine, 2008-04, Vol.10 (4), p.301-305

2008

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Lipids and apolipoproteins in growth hormone-deficient children during treatment

Metabolism, clinical and experimental, 1994-12, Vol.43 (12), p.1457-1461

1994

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Evaluation of the patient with idiopathic mental retardation

The journal of neuropsychiatry and clinical neurosciences, 1995, Vol.7 (3), p.361-370

1995

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Cerebral arteriovenous malformation in three successive generations

Pediatric neurology, 1997-07, Vol.17 (1), p.74-76

1997

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Secondary Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to Detection of an Unbalanced Derivative Chromosome 12 by SNP Array Analysis

Clinical variability of tetrasomy 12p

Dementia pugilistica and cavum septi pellucidi : Born to box ?

Linkage of a Human Brain Malformation, Familial Holoprosencephaly, to Chromosome 7 and Evidence for Genetic Heterogeneity

Subtle Anomalies of the Septum Pellucidum and Neurodevelopmental Deficits

Hypoplasia of the cerebellar vermis in neurogenetic syndromes

Evaluation of the Child with Idiopathic Mental Retardation

Transcriptional regulation of MMP-9 expression in stromal cells of human giant cell tumor of bone by tumor necrosis factor-alpha

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

Postterm Closure of the Cavum Septi Pellucidi and Developmental Outcome in Premature Infants

Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Does selection bias determine the prevalence of the cavum septi pellucidi?

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome

Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Lipids and apolipoproteins in growth hormone-deficient children during treatment

Evaluation of the patient with idiopathic mental retardation

Cerebral arteriovenous malformation in three successive generations

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