Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 12 · June 2023 DOI: 10.1055/s-013-57321 Editorial 095 Çaksen, Hüseyin: Retracted Article: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder Full Text HTML Review Article 097 de Azevedo, Brenda Lamônica Rodrigues; Roni, Gabriel Marim; Torrelio, […]
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of Pediatric Genetics Issue 03 · Volume 12 · September 2023 DOI: 10.1055/s-013-58060 Editorial 185 Çaksen, Hüseyin: Retracted Article: A Brief View of The Prophet Ayyub’s (Alayhi As-Salam) Disease: Was It Job’s Syndrome? Full Text HTML Review Article 187 Lubinsky, Mark: Genesis of a Fact: Tay-Sachs Disease as a “Simple […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 12 · December 2023 DOI: 10.1055/s-013-58841 Corrigendum e1 Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 13 · March 2024 DOI: 10.1055/s-014-59393 Contributing Reviewers i Contributing Reviewers in 2023 Full Text HTML PDF (28 kb) Original Article 001 Al-Kasbi, Ghalia; Al-Murshedi, Fathiya; Al-Futaisi, Amna; Al-Jabry, Tariq; Zadjali, Fahad; Al-Yahyaee, Said; Al-Maawali, Almundher: Revisiting Exome Data Identified Missed Splice Site […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 13 · June 2024 DOI: 10.1055/s-014-59600 Original Article 081 Srivastava, Priyanka; Kaur, Parminder; Daniel, Roshan; Chaudhry, Chakshu; Kaur, Anit; Seth, Saurabh; Kumari, Divya; Kaur, Anupriya; Panigrahi, Inusha: Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 13 · September 2024 DOI: 10.1055/s-014-60029 Original Article 167 Ramos-Mejía, R; del Pino, M; Aza-Carmona, M; Abbate, S; Obregon, M G.; Heath, K E.; Fano, V: Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome Full Text HTML PDF (2833 kb) […]