Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 09 · December 2020 DOI: 10.1055/s-010-49031 Original Article 221 Tangshewinsirikul, Chayada; Dulyaphat, Wirada; Tim-Aroon, Thipwimol; Parinayok, Rachanee; Chareonsirisuthigul, Takol; Korkiatsakul, Veerawat; Waisayarat, Jariya; Sirisreetreerux, Pokket; Tingthanatikul, Yada; Wattanasirichaigoon, Duangrurdee: Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review Full Text HTML PDF […]
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 01 · Volume 10 · March 2021 DOI: 10.1055/s-011-50255 Reviewers’ List i Contributing Reviewers in 2020 Full Text HTML PDF (76 kb) Review Article 001 Wicher, Dorota; Obrycki, Łukasz; Jankowska, Irena: Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges Full Text HTML PDF (144 […]
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 03 · Volume 10 · September 2021 DOI: 10.1055/s-011-51815 Review Article 173 Falsaperla, Raffaele; Giacchi, Valentina; Aguglia, Maria Giovanna; Mailo, Janette; Longo, Maria Grazia; Natacci, Federica; Ruggieri, Martino: Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 04 · Volume 10 · December 2021 DOI: 10.1055/s-011-52342 Case-Based Review 259 Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Savasta, Salvatore; Raucci, Umberto; Pavone, Piero: A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1 Full Text HTML PDF (447 kb) Original […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 11 · March 2022 DOI: 10.1055/s-012-52825 Contributing Reviewers i Contributing Reviewers of 2021 Full Text HTML PDF (50 kb) Case-Based Review 001 Butler, Merlin G.: Prolapsed Rectum and Risk Factors in Prader–Willi Syndrome: A Case-Based Review Full Text HTML PDF (77 kb) Review […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 02 · Volume 11 · June 2022 DOI: 10.1055/s-012-54092 Erratum e1 Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed: Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver Full Text HTML PDF (23 kb) […]
Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 03 · Volume 11 · September 2022 DOI: 10.1055/s-012-54687 Original Article 173 Abdellatif, May A.K.; Eyada, Eman; Rabie, Walaa; Abdelaziz, Azza; Shahin, Walaa: Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia Full Text HTML PDF (347 kb) 179 Elangovan, Bharathi; N.T, Rajesh; Subrahmanian, Meenu: Apolipoprotein-E Gene […]
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, […]
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 […]