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Volume 09; Issue 01
Main
Journal of Pediatric Genetics
Volume 09; Issue 01
Journal of Pediatric Genetics
Volume 09; Issue 01
1
The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review
Cárdenas-Nieto, Diana
,
Forero-Castro, Maribel
,
Esteban-Pérez, Clara
,
MartÃnez-Lozano, Julio
,
Briceño-Balcázar, Ignacio
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 228 KB
Your tags:
2020
2
Anthropometric and Metabolic Responses in FTO rs9939609 Gene Polymorphism after a Multidisciplinary Lifestyle Intervention in Overweight and Obese Adolescents
Barbian, Cláudia Daniela
,
Reuter, Cézane Priscila
,
Renner, Jane Dagmar Pollo
,
da Silva, Priscila Tatiana
,
Klinger, Elisa Inês
,
Hobkirk, James Philip
,
de Moura Valim, Andréia Rosane
,
Burgos, Miria
Journal:
Journal of Pediatric Genetics
Year:
2020
Language:
english
File:
PDF, 316 KB
Your tags:
english, 2020
3
The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci
Ozyilmaz, Berk
,
Kirbiyik, Ozgur
,
Ozdemir, Taha R.
,
Kaya, Ozge Ozer
,
Kutbay, Yasar B.
,
Erdogan, Kadri M.
,
Guvenc, Merve Saka
,
Koc, Altug
Journal:
Journal of Pediatric Genetics
Year:
2020
Language:
english
File:
PDF, 427 KB
Your tags:
english, 2020
4
Mixed Phenotype of LangerâGiedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
Herrero-GarcÃa, Ana
,
MarÃn-Reina, Purificación
,
Cabezuelo-Huerta, Gloria
,
Ferrer-Lorente, M. Belén
,
Rosello, Mónica
,
Orellana, Carmen
,
MartÃnez, Francisco
,
Pérez-Aytés, Antonio
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 280 KB
Your tags:
2020
5
A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotypeâc.4096Aâ>âT
Arslan, Ahmet Burak
,
Zamani, AyÅe Gül
,
Pekcan, Sevgi
,
Yıldırım, Mahmut Selman
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 214 KB
Your tags:
2020
6
A Report of a Novel Pathogenic Variant in a Family with BuschkeâOllendorf Syndrome
Jain, Angita
,
Selvam, Pavalan
,
Atwal, Herjot
,
Atwal, Paldeep S.
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 84 KB
Your tags:
2020
7
Polymorphism in MTHFR (at SNPs 677 and 1298) in Paternal Sperm DNA and Risk of Retinoblastoma in their Children
Sriwijitalai, Won
,
Wiwanitkit, Viroj
Journal:
Journal of Pediatric Genetics
Year:
2020
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2020
8
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant
da Costa Almeida, Carla Bastos
,
Welter, Amanda Thum
,
Abech, Gabriel Dotta
,
Brandão, Gabriela Rangel
,
Flores, José Antônio Monteiro
,
Schüle, Birgitt
,
Francke, Uta
,
Fiegenbaum, Marilu
,
Zen, Paulo Ri
Journal:
Journal of Pediatric Genetics
Year:
2020
Language:
english
File:
PDF, 245 KB
Your tags:
english, 2020
9
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea
Masip, Etna
,
Donat, Ester
,
Polo, Begoña
,
Oltra, Silvestre
,
Ortega, Pedro
,
Ribes-Koninckx, Carmen
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 363 KB
Your tags:
2020
10
Contributing Reviewers in 2019
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 49 KB
Your tags:
2020
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