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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Clinical genetics, 2010-05, Vol.77 (5), p.464-473

2010

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Nature genetics, 2001-11, Vol.29 (3), p.321-325

2001

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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.353-356

1996

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Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations

Oncogene, 1999-11, Vol.18 (46), p.6271-6277

1999

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Arrhythmia and sudden death associated with elevated cardiac chloride channel activity

Journal of cellular and molecular medicine, 2011-11, Vol.15 (11), p.2307-2316

2011

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

Gut, 2003-08, Vol.52 (8), p.1159-1164

2003

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.357-360

1996

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Visual Assessment of Contusion-Like Lesions Caused by Live Sharksucker (Echeneis naucrates) Attachment in an Indo-Pacific Humpback Dolphin (Sousa chinensis)

Journal of wildlife diseases, 2022-04, Vol.58 (2), p.445-449

2022

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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Human molecular genetics, 1997-10, Vol.6 (11), p.1847-1853

1997

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Cystic Fibrosis: Genotypic and Phenotypic Variations

Annual review of genetics, 1995-01, Vol.29 (1), p.777-807

1995

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Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Human molecular genetics, 1998-07, Vol.7 (7), p.1105-1112

1998

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A mutation in CFTR produces different phenotypes depending on chromosomal background

Nature genetics, 1993-11, Vol.5 (3), p.274-278

1993

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Postmortem Neuroimaging of Cetacean Brains Using Computed Tomography and Magnetic Resonance Imaging

Frontiers in Marine Science, 2020-10, Vol.7

2020

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Virtopsy as a Revolutionary Tool for Cetacean Stranding Programs: Implementation and Management

Frontiers in Marine Science, 2020-11, Vol.7

2020

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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

Clinical genetics, 2005-01, Vol.67 (1), p.93-97

2005

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The cystic fibrosis gene: a molecular genetic perspective

Cold Spring Harbor perspectives in medicine, 2013-02, Vol.3 (2), p.a009472-a009472

2013

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Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR

The European respiratory journal, 2008-08, Vol.32 (2), p.334-343

2008

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Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

JAMA : the journal of the American Medical Association, 1999-06, Vol.281 (23), p.2217

1999

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature genetics, 1999-06, Vol.22 (2), p.159-163

1999

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism

American journal of medical genetics, 2003-08, Vol.121A (1), p.37-40

2003

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Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

American journal of human genetics, 2000, Vol.66 (1), p.312-319

2000

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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Nature genetics, 1998-10, Vol.20 (2), p.171-174

1998

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A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

Clinical genetics, 2005-02, Vol.67 (2), p.183-188

2005

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Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

The Journal of biological chemistry, 1993-08, Vol.268 (23), p.17478-17488

1993

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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations

Arrhythmia and sudden death associated with elevated cardiac chloride channel activity

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Visual Assessment of Contusion-Like Lesions Caused by Live Sharksucker (Echeneis naucrates) Attachment in an Indo-Pacific Humpback Dolphin (Sousa chinensis)

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Cystic Fibrosis: Genotypic and Phenotypic Variations

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

A mutation in CFTR produces different phenotypes depending on chromosomal background

Postmortem Neuroimaging of Cetacean Brains Using Computed Tomography and Magnetic Resonance Imaging

Virtopsy as a Revolutionary Tool for Cetacean Stranding Programs: Implementation and Management

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

The cystic fibrosis gene: a molecular genetic perspective

Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism

Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

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