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Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

Osteoporosis international, 2018-09, Vol.29 (9), p.1987-2009

2018

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Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

Clinical and experimental dermatology, 2020-03, Vol.45 (2), p.257-259

2020

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Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family

Clinical and experimental dermatology, 2020-01, Vol.45 (1), p.117-119

2020

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A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

Journal of medical genetics, 2010-04, Vol.47 (4), p.230-235

2010

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Enhanced cardiogenesis in embryonic stem cells overexpressing the GATA-4 transcription factor

Development (Cambridge), 1997-06, Vol.124 (12), p.2387-2395

1997

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Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Clinical genetics, 2014-02, Vol.85 (2), p.127-137

2014

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Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation

Journal of the European Academy of Dermatology and Venereology, 2015-12, Vol.29 (12), p.2489-2490

2015

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Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis

Journal of the European Academy of Dermatology and Venereology, 2017-03, Vol.31 (3), p.e142-e144

2017

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Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer

Clinical genetics, 2017-11, Vol.92 (5), p.495-502

2017

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A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia

Clinical and experimental dermatology, 2017-04, Vol.42 (3), p.313-315

2017

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A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Journal of the European Academy of Dermatology and Venereology, 2016-12, Vol.30 (12), p.e217-e219

2016

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Optimization of a Brayton external combustion gas-turbine system for extended range electric vehicles

Energy (Oxford), 2018-05, Vol.150, p.745-758

2018

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Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

JDR clinical and translational research, 2018-01, Vol.3 (1), p.28-34

2018

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Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6

Developmental biology, 2003-02, Vol.254 (1), p.131-148

2003

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Exergo-technological explicit methodology for gas-turbine system optimization of series hybrid electric vehicles

Proceedings of the Institution of Mechanical Engineers. Part D, Journal of automobile engineering, 2018-09, Vol.232 (10), p.1323-1338

2018

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Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

Clinical genetics, 2007-07, Vol.72 (1), p.59-62

2007

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A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Cell, 2001-09, Vol.106 (6), p.709-721

2001

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Photosensibilité sévère et retard de développement au sein d’une famille consanguine

Annales de dermatologie et de vénéréologie, 2019-12, Vol.146 (12), p.A254-A255

2019

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Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells

Development (Cambridge), 2002-09, Vol.129 (17), p.4045-4055

2002

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Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease

Clinical genetics, 2007-09, Vol.72 (3), p.264-267

2007

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Cooperative Interaction between GATA-4 and GATA-6 Regulates Myocardial Gene Expression

Molecular and Cellular Biology, 1999-06, Vol.19 (6), p.4355-4365

1999

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NFATC1: An Integrating Signal at the Heart of the Valve

Biochemistry and analytical biochemistry, 2012, Vol.1 (7)

G, Nemer

2012

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P329GATA5: a key player in congenital heart diseases

Cardiovascular research, 2014-07, Vol.103 (suppl 1), p.S59-S60

2014

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P569A novel role for NFATC1 in patients with both congenital heart disease and glaucoma

Cardiovascular research, 2014-07, Vol.103 (suppl 1), p.S102-S102

2014

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Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO 2A1mutation

Journal of the European Academy of Dermatology and Venereology, 2015-12, Vol.29 (12), p.2489-2490

2015

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Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature

Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

Enhanced cardiogenesis in embryonic stem cells overexpressing the GATA-4 transcription factor

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis

Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia

A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Optimization of a Brayton external combustion gas-turbine system for extended range electric vehicles

Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets

Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6

Exergo-technological explicit methodology for gas-turbine system optimization of series hybrid electric vehicles

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Photosensibilité sévère et retard de développement au sein d’une famille consanguine

Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells

Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease

Cooperative Interaction between GATA-4 and GATA-6 Regulates Myocardial Gene Expression

NFATC1: An Integrating Signal at the Heart of the Valve

P329GATA5: a key player in congenital heart diseases

P569A novel role for NFATC1 in patients with both congenital heart disease and glaucoma

Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO 2A1mutation

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