Lista de obras -

A Report on a Family with <i>TMTC3</i>-Related Syndrome and Review

scientific article published on 04 November 2020

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome ⬇️

artículo científico publicado el 15 de junio de 2011

Branchio-oculo-facial syndrome associated with a white forelock ⬇️

artículo científico publicado el 1 de julio de 1998

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

scientific article published on 13 April 2020

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family ⬇️

artículo científico publicado el 28 de noviembre de 1997

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene ⬇️

artículo científico publicado el 19 de enero de 2011

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

artículo científico publicado en 2018

Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case ⬇️

artículo científico publicado el 1 de mayo de 1998

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities ⬇️

artículo científico publicado el 1 de agosto de 1997

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

artículo científico publicado en 2020

Dravet Syndrome in Lebanon: First Report on Cases with Mutations

artículo científico publicado en 2019

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

scientific article published on 30 July 2019

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome ⬇️

artículo científico publicado el 29 de abril de 2011

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features

artículo científico publicado en 2020

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

artículo científico publicado en 2017

Homozygous mutation in ELMO2 may cause Ramon syndrome.

artículo científico publicado en 2017

Interstitial duplication of the short arm of chromosome 2: report of a new case and review ⬇️

artículo científico publicado el 1 de septiembre de 1997

Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome

artículo científico publicado el 4 de mayo de 2012

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

artículo científico publicado en 2014

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

Mild Campomelic Dysplasia: Report on a Case and Review ⬇️

artículo científico publicado el 10 de enero de 2011

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon ⬇️

artículo científico publicado el 19 de junio de 2012

Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings ⬇️

artículo científico publicado el 1 de junio de 2003

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome ⬇️

artículo científico publicado el 1 de julio de 1997

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

artículo científico publicado en 2020

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

scientific article published on 16 April 2019

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

Turner syndrome in diverse populations

artículo científico publicado en 2019

Lista de obras de

A Report on a Family with <i>TMTC3</i>-Related Syndrome and Review

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome ⬇️

Branchio-oculo-facial syndrome associated with a white forelock ⬇️

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family ⬇️

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene ⬇️

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case ⬇️

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities ⬇️

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

Dravet Syndrome in Lebanon: First Report on Cases with Mutations

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome ⬇️

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features

Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Interstitial duplication of the short arm of chromosome 2: report of a new case and review ⬇️

Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Mild Campomelic Dysplasia: Report on a Case and Review ⬇️

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon ⬇️

Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings ⬇️

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome ⬇️

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Turner syndrome in diverse populations