List of works - Hanan H. Afifi

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

scientific article published on 18 September 2012

Body composition in Egyptian Turner syndrome girls.

scientific article published on April 2013

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

scientific article published on 5 June 2016

Congenital isolated leukonychia totalis in three Egyptian sibs

scientific article published on 15 March 2011

Constitutional retinoblastoma gene deletion in Egyptian patients.

scientific article

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

scientific article published on 31 May 2015

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

scientific article published on 12 February 2016

Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters

scientific article

Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease.

scientific article

Expanding the mutation and clinical spectrum of Roberts syndrome.

scientific article published on 29 December 2015

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder

scientific article published in August 2009

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

scientific article

Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.

scientific article published on 18 July 2012

Growth curves of Egyptian patients with Turner syndrome.

scientific article published on 27 July 2012

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.

scientific article

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

scientific article published in May 2018

Lenz-Majewski syndrome in a patient from Egypt

scientific article published on 12 August 2019

Lipoid proteinosis: A clinical and molecular study in Egyptian patients

scientific article published on 15 July 2017

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies

scientific article published on 03 August 2018

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

scientific article published on 08 April 2020

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

scientific article

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

scientific article published on August 2012

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

article

Phenotypic and molecular insights into PQBP1 -related intellectual disability

scientific article published on 23 September 2018

Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt.

scientific article published on 25 April 2017

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

scientific article published on 23 January 2014

List of works by Hanan H. Afifi

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Body composition in Egyptian Turner syndrome girls.

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Congenital isolated leukonychia totalis in three Egyptian sibs

Constitutional retinoblastoma gene deletion in Egyptian patients.

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters

Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease.

Expanding the mutation and clinical spectrum of Roberts syndrome.

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.

Growth curves of Egyptian patients with Turner syndrome.

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

Lenz-Majewski syndrome in a patient from Egypt

Lipoid proteinosis: A clinical and molecular study in Egyptian patients

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Mutations in ANTXR1 cause GAPO syndrome.

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

Phenotypic and molecular insights into PQBP1 -related intellectual disability

Quality of Life Outcomes in a Pediatric Thalassemia Population in Egypt.

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration