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Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

Human molecular genetics, 2003-10, Vol.12 (suppl-2), p.R229-R237

TASSABEHJI, M

2003

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Zinc deficiency impairs neuronal precursor cell proliferation and induces apoptosis via p53-mediated mechanisms

Brain research, 2008-10, Vol.1237, p.52-61

2008

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Pre‐doctoral dental students’ knowledge, training, perceptions, and attitudes regarding obesity and treatments: A survey study

Journal of dental education, 2024-06, Vol.88 (6), p.832-839

2024

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Applying course mapping to facilitate an integrated dental course

Journal of dental education, 2022-12, Vol.86 (S3), p.1712-1715

2022

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Adapting a flipped classroom model to improve residents’ attendance and engagement

Journal of dental education, 2022-06, Vol.86 (S1), p.815-817

2022

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Zinc deficiency induces depression-like symptoms in adult rats

Physiology & behavior, 2008-10, Vol.95 (3), p.365-369

2008

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Exploring dental faculty perceptions of current strategies and barriers to retention

Journal of dental education, 2023-12, Vol.87 (12), p.1654-1660

2023

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Clinical genetics, 2008-11, Vol.74 (5), p.434-444

2008

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GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif ‘GUCE’

FEBS letters, 2007-03, Vol.581 (6), p.1233-1242

2007

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Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

Journal of medical genetics, 2003-02, Vol.40 (2), p.136-140

2003

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Copper Alters the Conformation and Transcriptional Activity of the Tumor Suppressor Protein p53 in Human Hep G2 Cells

Experimental biology and medicine (Maywood, N.J.), 2005-11, Vol.230 (10), p.699-708

2005

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The mutational spectrum in Waardenburg syndrome

Human molecular genetics, 1995-11, Vol.4 (11), p.2131-2137

1995

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Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

Nature genetics, 1993-01, Vol.3 (1), p.26-30

1993

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Iron and ageing: an introduction to iron regulatory mechanisms

Ageing research reviews, 2004-07, Vol.3 (3), p.251-263

2004

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Tremor in otosurgery: influence of physical strain on hand steadiness

Otology & neurotology, 2001-09, Vol.22 (5), p.672-677

2001

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GTF2IRD1 in Craniofacial Development of Humans and Mice

Science (American Association for the Advancement of Science), 2005-11, Vol.310 (5751), p.1184-1187

2005

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Expression profiling of p53-target genes in copper-mediated neuronal apoptosis

Neuromolecular medicine, 2005-01, Vol.7 (4), p.311-324

2005

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LIM-kinase deleted in Williams syndrome

Nature genetics, 1996-07, Vol.13 (3), p.272-273

1996

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In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene

Neuropsychologia, 2006, Vol.44 (5), p.679-685

2006

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Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages

Journal of bone and mineral research, 1999-05, Vol.14 (5), p.730-739

1999

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Discriminating Power of Localized Three-Dimensional Facial Morphology

American journal of human genetics, 2005-12, Vol.77 (6), p.999-1010

2005

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Tandem duplication within a neurofibromatosis type I (NFI) gene exon in a family with features of Watson syndrome and Noonan syndrome

American journal of human genetics, 1993-07, Vol.53 (1), p.90-95

1993

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene

Nature genetics, 1994-11, Vol.8 (3), p.251-255

1994

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Exploring Williams–Beuren syndrome using myGrid

Bioinformatics, 2004-08, Vol.20 (suppl-1), p.i303-i310

2004

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Nature genetics, 1994-11, Vol.8 (3), p.251-255

1994

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Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

Zinc deficiency impairs neuronal precursor cell proliferation and induces apoptosis via p53-mediated mechanisms

Pre‐doctoral dental students’ knowledge, training, perceptions, and attitudes regarding obesity and treatments: A survey study

Applying course mapping to facilitate an integrated dental course

Adapting a flipped classroom model to improve residents’ attendance and engagement

Zinc deficiency induces depression-like symptoms in adult rats

Exploring dental faculty perceptions of current strategies and barriers to retention

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif ‘GUCE’

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

Copper Alters the Conformation and Transcriptional Activity of the Tumor Suppressor Protein p53 in Human Hep G2 Cells

The mutational spectrum in Waardenburg syndrome

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

Iron and ageing: an introduction to iron regulatory mechanisms

Tremor in otosurgery: influence of physical strain on hand steadiness

GTF2IRD1 in Craniofacial Development of Humans and Mice

Expression profiling of p53-target genes in copper-mediated neuronal apoptosis

LIM-kinase deleted in Williams syndrome

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene

Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages

Discriminating Power of Localized Three-Dimensional Facial Morphology

Tandem duplication within a neurofibromatosis type I (NFI) gene exon in a family with features of Watson syndrome and Noonan syndrome

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene

Exploring Williams–Beuren syndrome using myGrid

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

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