Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 07 · June 2018 DOI: 10.1055/s-008-39819 Review Article 047 Marik, Binata; Bagga, Arvind; Sinha, Aditi; Hari, Pankaj; Sharma, Arundhati: Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update Full Text HTML PDF (452 kb) Original Article […]
Kategori Arşivleri: Journal of Pediatric Genetics
The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric genetics.
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 07 · September 2018 DOI: 10.1055/s-008-41068 Erratum e1 Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie: Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family Full Text HTML PDF (23 kb) Original Article 097 Radha […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 07 · December 2018 DOI: 10.1055/s-008-41866 Review Article 143 Heathfield, Laura Jane; Martin, Lorna Jean; Ramesar, Raj: A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases Full Text HTML PDF (184 kb) Original Article 150 Badawy, Magda; Mosallam, Dalia S.; […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 08 · March 2019 DOI: 10.1055/s-009-42445 Reviewers’ List i Contributing Reviewers in 2018 Full Text HTML PDF (37 kb) Original Article 001 Arican, Pinar; Olgac Dundar, Nihal; Ozyilmaz, Berk; Cavusoglu, Dilek; Gencpinar, Pinar; Erdogan, Kadri Murat; Saka Guvenc, Merve: Chromosomal Microarray Analysis in […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 08 · June 2019 DOI: 10.1055/s-009-42999 Original Article 041 González-del Angel, Ariadna; Fernández-Hernández, Liliana; Sánchez-Verdiguel, Iraís; González-Núñez, Aidy; Martínez-Cruz, Víctor; Sánchez, Carmen; Moreno-Rojas, Rosario; Alcántara-Ortigoza, Miguel Angel: Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 08 · September 2019 DOI: 10.1055/s-009-43865 Review Article 109 Nielsen, Cory; Ratiu, Ileana; Esfandiarei, Mitra; Chen, Angela; Selamet Tierney, Elif Seda: A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers Full Text HTML PDF (294 kb) Original Article 123 […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 08 · December 2019 DOI: 10.1055/s-009-44792 Original Article 179 El-Bassyouni, Hala T.; 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 Full Text HTML PDF (312 kb) 187 Chukua, […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 09 · March 2020 DOI: 10.1055/s-010-45580 Reviewers’ List i Contributing Reviewers in 2019 Full Text HTML PDF (47 kb) Review Article 001 Cárdenas-Nieto, Diana; Forero-Castro, Maribel; Esteban-Pérez, Clara; Martínez-Lozano, Julio; Briceño-Balcázar, Ignacio: The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 10 · June 2021 DOI: 10.1055/s-011-50847 Original Article 085 Gowda, Vykuntaraju K.; Vegda, Hemadri; Nagarajan, Balamurugan B.; Shivappa, Sanjay K.: Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 09 · June 2020 DOI: 10.1055/s-010-48376 Review Article 077 Kostara, Maria; Chondrou, Vasiliki; Sgourou, Argyro; Douros, Konstantinos; Tsabouri, Sophia: HLA Polymorphisms and Food Allergy Predisposition Full Text HTML PDF (268 kb) Original Article 087 Singh, Ankur; Prasad, Rajniti; Mishra, Om Prakash: Spectrum of […]