Journal of Pediatric Genetics

Issue 03 · September 2019

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Issue
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

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Original Article
123
del Pino, Mariana; Aza-Carmona, Miriam; Medino-Martín, David; Gomez, Abel; Heath, Karen E.; Fano, Virginia; Obregon, María Gabriela: SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation FREE ACCESS

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133
Kumru, Burcu; Oztürk Hismi, Burcu: Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

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137
Taleb, Hasan; Afshar, Ahmadreza; Abdi rad, Isa; Tabrizi, Ali; Ghazani, Reza Babaei; Bateni, Amin: A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran

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Case Report
142
Chatmethakul, Trassanee; Phaltas, Rozaleen; Minzes, Gwen; Martinez, Jose; Bhat, Ramachandra: A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

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147
Vásquez Sotomayor, Flor; Abarca-Barriga, Hugo Hernán: Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis

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Supplementary Material

Supplementary Material
153
Gupta, Neerja; Correa, Alec Reginald Errol; Jana, Manisha; Kabra, Madhulika: Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

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157
Jain, Angita; Atwal, Paldeep S.: Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report

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160
Mutlu-Albayrak, Hatice; Damar, Çağrı; Gürbüz, Gürkan: Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

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163
Yadav, Sakshi; Thakur, Seema; Kohlhase, Juergen; Bhari, Neetu; Kabra, Madhulika; Gupta, Neerja: Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome

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168
Gumus, Evren: A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

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172
Mansour, Hicham; Sabbagh, Sandra; Bizzari, Sami; El-Hayek, Stephany; Chouery, Eliane; Gambarini, Alicia; Gencik, Martin; Mégarbané, André: The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

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