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 […]
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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 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 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 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 01 · Volume 12 · March 2023 DOI: 10.1055/s-013-56372 Contributing Reviewers i Contributing Reviewers in 2022 Full Text HTML PDF (30 kb) Erratum e1 Chow, Chit Kwong; Luk, Ho Ming; Wong, Suet Na: Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate Full Text HTML PDF (27 kb) […]
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 04 · Volume 11 · December 2022 DOI: 10.1055/s-012-55471 Original Article 261 Kaur, Harvinder; Bhalla, Anil Kumar; Panigrahi, Inusha: Percentile Charts for Body Mass Index of Indian Down Syndrome Children Full Text HTML PDF (532 kb) 267 Bhat, Maya Dattatraya; Manjunath, Netravathi; Kumari, Renu; Faruq, Mohammed; […]