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The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

Cell death and differentiation, 2010-06, Vol.17 (6), p.962-974

2010

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Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene

Clinical genetics, 2018-06, Vol.93 (6), p.1223-1228

2018

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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

Clinical genetics, 2018-03, Vol.93 (3), p.632-639

2018

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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Clinical genetics, 2019-02, Vol.95 (2), p.268-276

2019

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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Clinical genetics, 2018-03, Vol.93 (3), p.675-681

2018

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Congenital heart defects in the recurrent 2q13 deletion syndrome

European journal of medical genetics, 2022-01, Vol.65 (1), p.104381-104381, Article 104381

2022

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Familial transposition of the great arteries caused by multiple mutations in laterality genes

Heart (British Cardiac Society), 2010-05, Vol.96 (9), p.673-677

2010

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Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease

Neurology, 2009-09, Vol.73 (10), p.761-767

2009

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Pachydermoperiostosis: an update

Clinical genetics, 2005-12, Vol.68 (6), p.477-486

2005

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RASopathies: Clinical Diagnosis in the First Year of Life

Molecular syndromology, 2011-09, Vol.1 (6), p.282-289

2011

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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

Clinical genetics, 2011-08, Vol.80 (2), p.184-190

2011

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Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease

The American journal of gastroenterology, 2009-01, Vol.104 (1), p.110-116

2009

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The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Neurology, 2005-05, Vol.64 (10), p.1810-1812

2005

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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

Journal of medical genetics, 2007-12, Vol.44 (12), p.800-808

2007

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The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

Journal of medical genetics, 2003-01, Vol.40 (1), p.18-24

2003

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Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

Journal of medical genetics, 2005-02, Vol.42 (2), p.e16-e16

2005

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Genetic prediction of common diseases. Still no help for the clinical diabetologist

Nutrition, metabolism, and cardiovascular diseases, 2012-11, Vol.22 (11), p.929-936

2012

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Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

Clinical genetics, 2013-10, Vol.84 (4), p.362-367

2013

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Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

Journal of medical genetics, 2003-09, Vol.40 (9), p.704-708

2003

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P.07.10 FAECAL-ASSOCIATED AND MUCOSAL-ASSOCIATED MICROBIOTA IN INFLAMMATORY BOWEL DISEASE PATIENTS AND HEALTHY SUBJECTS: PRELIMINARY EVIDENCE

Digestive and liver disease, 2016-02, Vol.48, p.e161-e161

2016

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.e68-e68

2004

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Erythrocytes-Mediated Delivery of Dexamethasone in Steroid-Dependent IBD Patients-A Pilot Uncontrolled Study

The American journal of gastroenterology, 2005-06, Vol.100 (6), p.1370-1375

2005

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The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

Neurology, 2005-06, Vol.64 (11), p.1958-1960

2005

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168 Loss of CFTR function drives the host-gut microbiota interaction: from omics data to clinical cue

Journal of cystic fibrosis, 2017-06, Vol.16, p.S109-S109

2017

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A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

Clinical and experimental rheumatology, 2010-03, Vol.28 (2), p.153

2010

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The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Congenital heart defects in the recurrent 2q13 deletion syndrome

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease

Pachydermoperiostosis: an update

RASopathies: Clinical Diagnosis in the First Year of Life

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

Genetic prediction of common diseases. Still no help for the clinical diabetologist

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

P.07.10 FAECAL-ASSOCIATED AND MUCOSAL-ASSOCIATED MICROBIOTA IN INFLAMMATORY BOWEL DISEASE PATIENTS AND HEALTHY SUBJECTS: PRELIMINARY EVIDENCE

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Erythrocytes-Mediated Delivery of Dexamethasone in Steroid-Dependent IBD Patients-A Pilot Uncontrolled Study

The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

168 Loss of CFTR function drives the host-gut microbiota interaction: from omics data to clinical cue

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

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