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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

American journal of human genetics, 2009-11, Vol.85 (5), p.655-666

2009

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Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population‐based data

Prenatal diagnosis, 2020-09, Vol.40 (10), p.1310-1314

2020

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.534-539

2011

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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Human mutation, 2013-11, Vol.34 (11), p.1519-1528

2013

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Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Human mutation, 2017-10, Vol.38 (10), p.1360-1364

2017

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Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

Cytogenetic and genome research, 2020-07, Vol.160 (4), p.185-192

2020

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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.319-329

2018

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.534-539

2011

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Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome

European journal of medical genetics, 2009-07, Vol.52 (4), p.234-238

2009

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Inherited 2q23.1 microdeletions involving the MBD5 locus

Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.608-613

2017

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A 117-kb Microdeletion Removing HOXD9– HOXD13 and EVX2 Causes Synpolydactyly

American journal of human genetics, 2002-02, Vol.70 (2), p.547-555

2002

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Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22years of population‐based data

Prenatal diagnosis, 2020-09, Vol.40 (10), p.1310-1314

2020

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Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2807-2815

2011

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Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene

Molecular biotechnology, 2007-02, Vol.35 (2), p.135-140

2007

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.381-388

2012

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Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases: BERNKOPF et al

Human mutation, 2017-10, Vol.38 (10), p.1360-1364

2017

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Tell Me Your Story: A Brief Exposure Treatment for Civilian War Victims

PsycCritiques, 2005-06, Vol.50 (24), p.No Pagination Specified-No Pagination Specified

2005

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Inherited 2q23.1 microdeletions involving the MBD 5 locus

Molecular genetics & genomic medicine, 2017-09, Vol.5 (5), p.608-613

2017

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Surgical correction of entropion and excess upper eyelid skin in congenital cutis laxa: a case report

Orbit (Amsterdam), 1999, Vol.18 (1), p.53-58

1999

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Customer Win‐Back: How to Recapture Lost Customers – and Keep Them Loyal

The Journal of Consumer Marketing, 2002-06, Vol.19 (3), p.280-282

Collins, Amanda L

2002

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Dialectical behavior therapy in state hospitals: Does it work and what moderates the outcomes?

Collins, Amanda L

2010

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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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The Etruscans in the Renaissance: The Sacred Destiny of Rome and the "Historia Viginti Saeculorum" of Giles of Viterbo (c. 1469-1532)

Historical reflections, 2001-04, Vol.27 (1), p.107-137

Collins, Amanda L.

2001

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A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients

Journal of medical genetics, 1994-07, Vol.31 (7), p.528-533

1994

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Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

Human genetics, 1994-05, Vol.93 (5), p.541-544

1994

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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population‐based data

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome

Inherited 2q23.1 microdeletions involving the MBD5 locus

A 117-kb Microdeletion Removing HOXD9– HOXD13 and EVX2 Causes Synpolydactyly

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22years of population‐based data

Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases: BERNKOPF et al

Tell Me Your Story: A Brief Exposure Treatment for Civilian War Victims

Inherited 2q23.1 microdeletions involving the MBD 5 locus

Surgical correction of entropion and excess upper eyelid skin in congenital cutis laxa: a case report

Customer Win‐Back: How to Recapture Lost Customers – and Keep Them Loyal

Dialectical behavior therapy in state hospitals: Does it work and what moderates the outcomes?

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

The Etruscans in the Renaissance: The Sacred Destiny of Rome and the "Historia Viginti Saeculorum" of Giles of Viterbo (c. 1469-1532)

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

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