Diniz, Bruna Lixinski;

Deconte, Desirée;

Santos, Andressa Schneiders;

Rosa, Rafael Fabiano Machado;

Zen, Paulo Ricardo Gazzola:


Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

Dufresne, Craig R.;

McCormick, Rodger J.:


Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

Osman, Engy;

Eid, Abdel-Rahman;

Barakat, Tarek;

El-Morsi, Samar:


Screening for the Most Common Mutations of

CFTR

Gene among Egyptian Children with Difficult-to-Treat Asthma

Seyhan, Serhat:


Molecular Heterogeneity in Cystic Fibrosis

Pappalardo, Xena Giada;

Praticò, Andrea Domenico;

Polizzi, Agata;

Ruggieri, Martino;

Piccione, Maria;

Corsello, Giovanni;

Falsaperla, Raffaele:


Primary Microcephaly with Novel Variant of

MCPH1

Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto’s Thyroiditis

Errichiello, Edoardo;

Zuffardi, Orsetta;

Marone, Piero;

Monzillo, Vincenzina;

Barbarini, Daniela;

Vergori, Antonio;

Bassi, Lorenzo Andrea;

Rispoli, Gaetana Anna;

De Amici, Mara;

Zecca, Marco:


Disseminated

Mycobacterium Avium

Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of

IFNGR1

for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Raj, Nutan;

Yadav, Neelu;

Prasad, Arun;

Kumar, Subhash;

Saxena, Ajit K.:


Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes

Al-fiky, Amira Fathy:


A Compound Heterozygous Mutation in the Ciliary Gene

TTC21B

Causes Nephronophthisis Type 12

Yue, Changjun;

Bradford, Kathryn;

Qing, Xin;

Panosyan, Eduard H.;

Gotesman, Moran:


Novel

ELANE

Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Eid, Ola M.;

Abdel-Hadi, Sawsan;

Hassib, Nehal;

Madian, Abdelrahman;

Afifi, Hanan H.;

Abdel-Salam, Ghada M. H.:


Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Butler, Merlin G.:


22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature