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.; […]
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Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 07 · March 2018 DOI: 10.1055/s-008-38507 Reviewers’ List i Contributing Reviewers in 2017 Full Text HTML PDF (34 kb) Review Article 001 Gettelfinger, John D.; Dahl, John P.: Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics Full Text HTML PDF […]
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 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 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 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 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 […]
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 […]