Forero-Castro, Maribel;

Esteban-Pérez, Clara;

Martínez-Lozano, Julio;

Briceño-Balcázar, Ignacio:


The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

Kirbiyik, Ozgur;

Ozdemir, Taha R.;

Kaya, Ozge Ozer;

Kutbay, Yasar B.;

Erdogan, Kadri M.;

Guvenc, Merve Saka;

Koc, Altug:


The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

Reuter, Cézane Priscila;

Renner, Jane Dagmar Pollo;

da Silva, Priscila Tatiana;

Klinger, Elisa Inês;

Hobkirk, James Philip;

de Moura Valim, Andréia Rosane;

Burgos, Miria Suzana:


Anthropometric and Metabolic Responses in

FTO

rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents

Dervisoglu, Elmire;

Ciftci, Ercument;

Corapcioglu, Funda;

Anik, Yonca:


PHACE Syndrome: A Rare Case

Gurkan, Hakan;

Atli, Engin;

Vatansever, Ulfet;

Acunas, Betul;

Mail, Cisem:


De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Zamani, Ayşe Gül;

Pekcan, Sevgi;

Yıldırım, Mahmut Selman:


A Novel Pathogenic Variant of the

CFTR

Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

Donat, Ester;

Polo, Begoña;

Oltra, Silvestre;

Ortega, Pedro;

Ribes-Koninckx, Carmen:


Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

Aza-Carmona, Miriam;

del Pino, Mariana;

Heath, Karen E.;

Fano, Virginia;

Obregon, Maria Gabriela:


Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

Marín-Reina, Purificación;

Cabezuelo-Huerta, Gloria;

Ferrer-Lorente, M. Belén;

Rosello, Mónica;

Orellana, Carmen;

Martínez, Francisco;

Pérez-Aytés, Antonio:


Mixed Phenotype of Langer–Giedion’s and Cornelia de Lange’s Syndromes in an 8q23.3-q24.1 Microdeletion without

TRPS1

Deletion

Welter, Amanda Thum;

Abech, Gabriel Dotta;

Brandão, Gabriela Rangel;

Flores, José Antônio Monteiro;

Schüle, Birgitt;

Francke, Uta;

Fiegenbaum, Marilu;

Zen, Paulo Ricardo Gazzola;

Rosa, Rafael Fabiano Machado:


Report of the Phenotype of a Patient with Roberts Syndrome and a Rare

ESCO2

Variant

Selvam, Pavalan;

Atwal, Herjot;

Atwal, Paldeep S.:


A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

Upadhyay, Swati;

Nandakumar, Anand;

Prabhakar, Jyothi;

Jain, Naveen:


Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of

STXBP2

in Exon 19

Pérez-Villa, Andy;

Yumiceba, Verónica;

Hernández, María Ángeles;

García-Cárdenas, Jennyfer M.;

Armendáriz-Castillo, Isaac;

Guerrero, Santiago;

Guevara-Ramírez, Patricia;

López-Cortés, Andrés;

Zambrano, Ana Karina;

García, Juan Luis;

Hernández, Jesús María;

Paz-y-Miño, César:


De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

Wiwanitkit, Viroj:


Polymorphism in

MTHFR

(at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children