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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Journal of medical genetics, 2010-01, Vol.47 (1), p.38-48

2010

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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

Journal of medical genetics, 2008-12, Vol.45 (12), p.787-793

2008

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

American journal of human genetics, 2005-07, Vol.77 (1), p.41-53

2005

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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Renpenning syndrome comes into focus

American journal of medical genetics. Part A, 2005-05, Vol.134A (4), p.415-421

2005

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Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Clinical genetics, 2008-01, Vol.73 (1), p.94-96

2008

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Autism and macrocephaly

The Lancet (British edition), 1997-06, Vol.349 (9067), p.1744-1745

1997

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Longitudinal Changes in Cognitive and Adaptive Behavior Scores in Children and Adolescents with the Fragile X Mutation or Autism

Journal of autism and developmental disorders, 2002-04, Vol.32 (2), p.107-114

2002

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Short-term memory deficits in carrier females with KDM5C mutations

Genetic counseling, 2012, Vol.23 (1), p.31

2012

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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

Journal of medical genetics, 2009-01, Vol.46 (1), p.9-13

2009

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Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.170-175

2006

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Cognitive-behavioural and autistic features of children with subtelomeric deletions

Journal of intellectual disability research, 2008-10, Vol.52 (10), p.813-813

2008

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Cognitive function in Coffin-Lowry syndrome

Clinical genetics, 2002-04, Vol.61 (4), p.299-304

2002

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Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 cases

American journal of medical genetics. Part C, Seminars in medical genetics, 2008-11, Vol.148C (4), p.252-256

2008

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A prenatal counseling conundrum: mosaic trisomy 16. A case study presenting cognitive functioning and adaptive behavior

Genetic counseling, 2003, Vol.14 (3), p.331

2003

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Fragile-X syndrome

American family physician, 1993-04, Vol.47 (5), p.1072

Simensen, R J

1993

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Autism and maternally derived aberrations of chromosome 15q

American journal of medical genetics, 1998-04, Vol.76 (4), p.327-336

1998

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The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

Journal of autism and developmental disorders, 2000-08, Vol.30 (4), p.355-358

2000

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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.937-944

2003

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Allan-herndon syndrome. I, Clinical studies

American journal of human genetics, 1990-09, Vol.47 (3), p.446-453

1990

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Fragile-X syndrome

American family physician, 1989-05, Vol.39 (5), p.185

1989

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Absence of MeCP2 mutations in patients from the South Carolina autism project

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2003-02, Vol.117B (1), p.97-101

2003

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Acquisition and retention of a motor skill by normal and retarded students

Perceptual and motor skills, 1973-06, Vol.36 (3), p.791-799

Simensen, R J

1973

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Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome

American journal of medical genetics, 1994-09, Vol.52 (3), p.339-345

1994

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Fragile X syndrome: a common etiology of mental retardation

American journal of mental deficiency, 1987-03, Vol.91 (5), p.445

1987

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Renpenning syndrome comes into focus

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Autism and macrocephaly

Longitudinal Changes in Cognitive and Adaptive Behavior Scores in Children and Adolescents with the Fragile X Mutation or Autism

Short-term memory deficits in carrier females with KDM5C mutations

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

Cognitive-behavioural and autistic features of children with subtelomeric deletions

Cognitive function in Coffin-Lowry syndrome

Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 cases

A prenatal counseling conundrum: mosaic trisomy 16. A case study presenting cognitive functioning and adaptive behavior

Fragile-X syndrome

Autism and maternally derived aberrations of chromosome 15q

The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

Allan-herndon syndrome. I, Clinical studies

Fragile-X syndrome

Absence of MeCP2 mutations in patients from the South Carolina autism project

Acquisition and retention of a motor skill by normal and retarded students

Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome

Fragile X syndrome: a common etiology of mental retardation

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