Hassan, Nagwa;

Mahfouz, Inas;

Abd-Elnaby, Azza E.;

Mostafa, Mostafa I.;

Tosson, Angie M.S.:


Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

Netsawang, Chayanont;

Padungthai, Kittipoom;

Khetkham, Thanitchet;

Chokevittaya, Piyaporn;

Poonjearansilp, Onapinya;

Prachuktum, Sariya;

Kositamongkol, Sudatip;

Techasatit, Wiliporn;

Silapamongkolkul, Phakatip;

Satayasai, Wallee;

Pusongchai, Tasama;

Surapolchai, Pacharapan;

Rojnueangnit, Kitiwan:


Two Novel

GATA1

Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

Pramanik, Raja;

Bakhshi, Radhika;

Vishnubhatla, Sreenivas;

Bakhshi, Sameer:


Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse

Sperb-Ludwig, Fernanda;

Guarany, Nicole Ruas;

Ribeiro, Erlane M.;

Lourenço, Charles M.;

Kim, Chong Ae;

Valadares, Eugênia R.;

Galera, Marcial Francis;

Acosta, Angelina X.;

Horovitz, Dafne Dain Gandelman;

Schwartz, Ida Vanessa Doederlein:


Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Marino, Simona Domenica;

Corsello, Giovanni;

Ruggieri, Martino;

Chiodo, Danilo Castellano;

Marino, Silvia;

Falsaperla, Raffaele:


Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

Hosseini, Seyedeh Maryam;

Alaei, Mohammadreza:


A Novel Frameshift Mutation Associated with Hurler’s Syndrome: A Case Report

Contreras, Marioxy;

Giordano, Jessica;

Parravicini, Elvira:


Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Bierhals, Tatjana;

Deindl, Philipp;

Hecher, Laura;

Hermann, Katharina;

Hempel, Maja;

Kloth, Katja;

Denecke, Jonas:


Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous

PLPBP

Missense Variant

Burattini, Sofia;

Pinochet, Constanza;

Benavides, Felipe;

Repetto, Gabriela M.:


Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

Carreño-Gago, Lidia;

García-Arumi, Elena;

Traveset, Alicia;

Montoya, Julio;

Ruiz-Pesini, Eduardo;

López, Ricard;

Brieva, Luis:


Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Vergadi, Eleni;

Galanakis, Emmanouil:


A Novel

CLCN5

Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease

Caruso, Paul;

Karaa, Amel:


A Newborn with Severe Ventriculomegaly: Expanding the

PPP2R1A

Gene Mutation Phenotype

Lewis, Andrea M.;

Yang, Yaping;

Chanprasert, Sirisak;

Potocki, Lorraine;

Scott, Daryl A.:


Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

El-Bazzal, Lara;

Mansour, Hicham;

Sabbagh, Sandra;

Al-Ali, Mahmoud Taleb;

Gambarini, Alicia;

Delague, Valerie;

El-Hayek, Stephany;

Mégarbané, André:


Further Delineation of the

TRAPPC6B

Disorder: Report on a New Family and Review