Campos-Acevedo, Luis Daniel;

Martínez de Villarreal, Laura E.:


Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Onsod, Preyaporn;

Korkiatsakul, Veerawat;

Rerkamnuaychoke, Budsaba;

Wattanasirichaigoon, Duangrurdee;

Chareonsirisuthigul, Takol:


The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

Raj, Anusha;

Vamyanmane, Dhananjaya K.;

Nagarajappa, Vani H.;

Srinivas, Sahana M.;

Tirumale, Rajalakshmi;

Ranganath, Jaya;

Gaddehosur, Chandan;

Vishwanathan, Gurudatta B.:


Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

Doganay Erdogan, Beyza;

Aslar Oner, Deniz;

Mahmud, Akkan;

Tasdelen, Serpil;

Kurekci, Emin;

Akar, Nejat;

Ozdag Sevgili, Hilal:


Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia

Souza, Paulo Victor Sgobbi de;

Farias, Igor Braga;

Badia, Bruno de Mattos Lombardi;

Filho, José Marcos Vieira de Albuquerque;

Lima, Ricello José Vieira;

Pinto, Wladimir Bocca Vieira de Rezende;

Oliveira, Acary Souza Bulle:


Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth’s Disease in Brazil

Tan, Karen Mei-Ling;

Zacharin, Margaret;

Ho, Cindy Wei-Li:


A De Novo Mosaic

PHEX

Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

Kumar, Dibyendu;

You, Bei;

Streck, Deanna L.;

Osborne, Lisa;

Dermody, James;

Jiang, Jie-Gen;

Pletcher, Beth A.:


Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

Kesavan, Shivan;

Aggarwal, Divya;

Chatterjee, Debajyoti;

Urtizberea, Andoni;

Suthar, Renu:


Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with

RYR1

-Related Congenital Centronuclear Myopathy

Gupta, Shailesh;

Mehta, A. P.;

Sidana, Poonam:


Infantile Galactosialidosis with Novel Mutation: An Early Presentation

Sriram, Chenni S.;

Prasanna, Priyanka;

Kohli, Utkarsh:


Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome

Wrobel, Kathryn E.;

Bosco, Gianna N.;

Jones, Carolyn H.:


Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Matysiak, Uta;

Willoughby, Colin E.;

Ruzaike, Gunda;

Cárdenas Tadich, Antonio;

Araya Castillo, Maykol;

Zara-Chirinos, Carmen;

Bracho, Ana;

Avendaño, Andrea;

Jilani, Houweyda;

Callea, Michele:


A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in

COL2A1

Kumari, Divya;

Panigrahi, Inusha;

Kaur, Parminder:


Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Antunes, Alexandre de A.;

Pastorino, Antonio C.;

Dorna, Mayra de B.;

Zanardo, Evelin A.;

Dias, Alexandre T.;

Sugayama, Sofia M. M.;

Odone-Filho, Vicente;

Kulikowski, Leslie D.;

Garanito, Marlene P.:


Novel

FERMT3

and

PTPRQ

Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Sathyan, Sajina;

Pournami, Femitha;

Prithvi, Ajai Kumar;

Nandakumar, Anand;

Prabhakar, Jyothi;

Jain, Naveen:


CODE Think! Rare Mutations of

STX3

Causing Microvillus Inclusion Disease