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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

Scientific reports, 2020-06, Vol.10 (1), p.9447-9447, Article 9447

2020

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Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Human molecular genetics, 2012-07, Vol.21 (14), p.3156-3172

2012

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Characterization of a ceramide kinase-like protein

Biochimica et biophysica acta, 2005-02, Vol.1687 (1), p.31-43

2005

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Ceramide kinase targeting and activity determined by its N-terminal pleckstrin homology domain

Biochemical and biophysical research communications, 2004-11, Vol.324 (4), p.1215-1219

2004

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Neuroinflammation and Aβ Accumulation Linked To Systemic Inflammation Are Decreased By Genetic PKR Down-Regulation

Scientific reports, 2015-02, Vol.5 (1), p.8489-8489, Article 8489

2015

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Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

European journal of medical genetics, 2020-05, Vol.63 (5), p.103869-103869, Article 103869

2020

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A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

European journal of medical genetics, 2019-11, Vol.62 (11), p.103576-103576, Article 103576

2019

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COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants

Molecular syndromology, 2019-01, Vol.9 (6), p.319-323

2019

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Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

Molecular syndromology, 2019-07, Vol.10 (4), p.219-222

2019

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Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

Clinical epigenetics, 2019-12, Vol.11 (1), p.195-195, Article 195

2019

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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1253-1259

2013

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Plasma nitrate levels are increased in adult Down syndrome patients

Biomarkers, 2013-06, Vol.18 (4), p.373-374

2013

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

Molecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1041-1052

2018

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BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

Molecular neurobiology, 2012-10, Vol.46 (2), p.297-303

2012

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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.880-884

2011

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Trisomy for Synaptojanin1 in Down’s Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer’s Disease

Alzheimer's & dementia, 2011-07, Vol.7 (4), p.S188-S189

2011

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P1‐243: Trisomy for Synaptojanin1 in Down's Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer's Disease

Alzheimer's & dementia, 2011-07, Vol.7 (4S_Part_5), p.S188-S189

2011

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Neuroinflammation and A[beta] Accumulation Linked To Systemic Inflammation Are Decreased By Genetic PKR Down-Regulation

Scientific reports, 2015-02, Vol.5, p.8489

2015

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A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

European journal of medical genetics, 2009-09, Vol.52 (5), p.341-343

2009

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How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

American Journal of Medical Genetics Part A, 2011, Vol.155A (4), p.880-884

2011

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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Characterization of a ceramide kinase-like protein

Ceramide kinase targeting and activity determined by its N-terminal pleckstrin homology domain

Neuroinflammation and Aβ Accumulation Linked To Systemic Inflammation Are Decreased By Genetic PKR Down-Regulation

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

Plasma nitrate levels are increased in adult Down syndrome patients

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

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Trisomy for Synaptojanin1 in Down’s Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer’s Disease

P1‐243: Trisomy for Synaptojanin1 in Down's Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer's Disease

Neuroinflammation and A[beta] Accumulation Linked To Systemic Inflammation Are Decreased By Genetic PKR Down-Regulation

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

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