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Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

Clinical genetics, 2010-09, Vol.78 (3), p.282-288

2010

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PRM191 - LONGITUDINAL CONSTRUCT VALIDITY OF THE HEMOPHILIA CAREGIVER IMPACT MEASURE

Value in health, 2018-10, Vol.21, p.S389-S389

2018

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A phenotype of early infancy predicts reactivity of the amygdala in male adults

Molecular psychiatry, 2012-10, Vol.17 (10), p.1042-1050

2012

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Integrating response shift into health-related quality of life research: a theoretical model

Social science & medicine (1982), 1999-06, Vol.48 (11), p.1507-1515

1999

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Adolescent Social Anxiety as an Outcome of Inhibited Temperament in Childhood

Journal of the American Academy of Child and Adolescent Psychiatry, 1999-08, Vol.38 (8), p.1008-1015

1999

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Inhibited and Uninhibited Infants "Grown up": Adult Amygdalar Response to Novelty

Science (American Association for the Advancement of Science), 2003-06, Vol.300 (5627), p.1952-1953

2003

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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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Methodological approaches for assessing response shift in longitudinal health-related quality-of-life research

Social science & medicine (1982), 1999-06, Vol.48 (11), p.1531-1548

1999

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The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

Clinical genetics, 2015-10, Vol.88 (4), p.386-390

2015

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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Journal of medical genetics, 2005-10, Vol.42 (10), p.780-786

2005

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Helping others helps oneself: response shift effects in peer support

Social science & medicine (1982), 1999-06, Vol.48 (11), p.1563-1575

1999

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Human molecular genetics, 2005-04, Vol.14 (8), p.1019-1027

2005

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Expanding the phenotypic spectrum of L1CAM-associated disease

Clinical genetics, 2006-05, Vol.69 (5), p.414-419

2006

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Detecting Polymorphisms and Mutations in Candidate Genes

American journal of human genetics, 2002-11, Vol.71 (5), p.1251-1252

2002

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Differential amygdalar response to novel versus newly familiar neutral faces: a functional MRI probe developed for studying inhibited temperament

Biological psychiatry (1969), 2003-05, Vol.53 (10), p.854-862

2003

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Using a retrospective pretest instead of a conventional pretest is replacing biases: a qualitative study of cognitive processes underlying responses to thentest items

Quality of life research, 2016-06, Vol.25 (6), p.1327-1337

2016

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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Clinical genetics, 2007-07, Vol.72 (1), p.19-22

2007

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Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

American journal of human genetics, 2002-07, Vol.71 (1), p.168-173

2002

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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Human genetics, 2006-07, Vol.119 (6), p.604-610

2006

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Nature genetics, 2003-04, Vol.33 (4), p.487-491

2003

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Total synthesis of Resolvin E1

Tetrahedron letters, 2011-05, Vol.52 (21), p.2623-2626

2011

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Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences

Human mutation, 2004-06, Vol.23 (6), p.582-589

2004

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Effects of oral contraceptives on sympathetic nerve activity during orthostatic stress in young, healthy women

American journal of physiology. Regulatory, integrative and comparative physiology, 2010-01, Vol.298 (1), p.R9-R14

2010

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Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2316-2320

2013

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X-linked intellectual disability: Unique vulnerability of the male genome

Developmental disabilities research reviews, 2009, Vol.15 (4), p.361-368

2009

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Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

PRM191 - LONGITUDINAL CONSTRUCT VALIDITY OF THE HEMOPHILIA CAREGIVER IMPACT MEASURE

A phenotype of early infancy predicts reactivity of the amygdala in male adults

Integrating response shift into health-related quality of life research: a theoretical model

Adolescent Social Anxiety as an Outcome of Inhibited Temperament in Childhood

Inhibited and Uninhibited Infants "Grown up": Adult Amygdalar Response to Novelty

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

Methodological approaches for assessing response shift in longitudinal health-related quality-of-life research

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Helping others helps oneself: response shift effects in peer support

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Expanding the phenotypic spectrum of L1CAM-associated disease

Detecting Polymorphisms and Mutations in Candidate Genes

Differential amygdalar response to novel versus newly familiar neutral faces: a functional MRI probe developed for studying inhibited temperament

Using a retrospective pretest instead of a conventional pretest is replacing biases: a qualitative study of cognitive processes underlying responses to thentest items

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Total synthesis of Resolvin E1

Branchio‐oto‐renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences

Effects of oral contraceptives on sympathetic nerve activity during orthostatic stress in young, healthy women

Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

X-linked intellectual disability: Unique vulnerability of the male genome

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