Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, +21

American Journal of Medical Genetics Part A

Shikimate leaf disc assay for early detection of glyphosate resistance in <i>Conyza canadensis</i> and relative transcript levels of EPSPS and ABC transporter genes

Nevena Nol, Daniela Tsikou, Maha M. Eid, +2

Weed Research

EngineeringBotanyGeneticsWeed ControlPlant Pathology +18

A homozygous mutation in <i>RNU4ATAC</i> as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

Ghada M. H. Abdel‐Salam, Noriko Miyake, Maha M. Eid, +8

American Journal of Medical Genetics Part A

Assessment of sperm motion characteristics in infertile renal transplant recipients using computerized analysis

Maha M. Eid, Ibrahim A. Abdel‐Hamid, Mohamed Sobh, +1

International Journal of Andrology

FertilityReproductive HealthSemen AnalysisReproductive BiologyFertilisation +17

Anti-diuretic hormone and genetic study in primary nocturnal enuresis

Amany Fatouh, Ayat A. Motawie, Amany M. Abd Al-Aziz, +6

Journal of Pediatric Urology

Voiding DysfunctionPhysiologyDiuretic ResistanceEndocrinologyMedicine +1

De Novo Mutation in <i><scp>ABCC</scp>9</i> Causes Hypertrichosis Acromegaloid Facial Features Disorder

Hanan H. Afifi, Mohamed S. Abdel‐Hamid, Maha M. Eid, +2

Pediatric Dermatology

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia

Ghada M. H. Abdel‐Salam, Inas Mazen, Maha M. Eid, +3

American Journal of Medical Genetics Part A

GeneticsMolecular GeneticsDisease Gene IdentificationSocial SciencesNeurobiology Of Disease +16

Expanding the mutation and clinical spectrum of Roberts syndrome

Hanan H. Afifi, Ghada M. H. Abdel‐Salam, Maha M. Eid, +6

Congenital Anomalies

Developmental AnomalyNovel Esco2 MutationMendelian DisorderGenetic DisorderGenetics +11

Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.

Ghada M. H. Abdel‐Salam, Hanan H. Afifi, Maha M. Eid, +2

PubMed

Developmental AnomalyEgyptian GirlCraniofacial DisorderGenetic DisorderDiagnosis +10

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Ghada M. H. Abdel‐Salam, Laura Flores‐Sarnat, Mona El‐Ruby, +7

American Journal of Medical Genetics Part A