DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publikationsdatum: 10 Juli 2024

Original Article

Zubaidi, Abdulqader Al; Al-Shamsi, Aisha: A Novel Missense Heterozygous Mutation in NKX2-5 Gene in a Family with Congenital Septal Defects and Cardiomyopathy: Case Series and Literature Review

Publikationsdatum: 04 Juli 2024

Original Article

Huang, Yi Juan; Jia, Rong Pu; Chen, Yuan Qiu; Zhou, Liang Ji; Gou, Chen Yu; Fan, Mei Qiong; Li, Si; Chen, Maofa; Lin, Hua Ming; Gao, Yu: Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder
Supplementary Material

Publikationsdatum: 24 Juni 2024

Original Article

Bangalore, Raghunath V; Asthana, Suramya; R., Reshma V.; Saini, Deepak Kumar; Alladi, Anand: Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias

Publikationsdatum: 30 Mai 2024

Original Article

Gowda, Vykuntaraju K.; K., Anusha Raj; Srinivasan, Varunvenkat M.; Vamyanmane, Dhananjaya K.; Srinivas, Sahana M.; Chickabasaviah, Yasha; Santhoshkumar, Rashmi; Mittal, Pallavi; Chikara, Surendra K.; Vishwanathan, Gurudatta Baraka: A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant—Checkerboard and Phylloid Type of Pigmentary Mosaicism

Publikationsdatum: 29 September 2023

Original Article

Zeylabi, Fatemeh; Jalali, Mohammad Taha; Kaydani, Gholam-Abbas; Jaseb, Kaveh; Saki, Najmaldin: rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura

Publikationsdatum: 06 September 2023

Original Article

Akbas, Ahsen Cavusoglu; Erdem, Elif; Bozdogan, Sevcan Tug; Harbiyeli, Ibrahim Inan; Yagmur, Meltem: CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Turkey

Original Article

Kandur, Yasar; Kocakap, Derya Beyza Sayın; Alpcan, Aysegul; Sanlı, Cihat; Sayan, Cemile Dayangan; Koyuncu, Ömer Lütfi: Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome

Publikationsdatum: 08 August 2023

Case-Based Review

Antoniadi, Marita; Lambrou, Dimitra; Mylona, Fani; Florentin, Lina; Bili, Chrysanthi; Stefanidis, Constantinos J.; Kostaridou, Stavroula: Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations

Publikationsdatum: 28 Juli 2023

Original Article

Dhiman, Shalini; Panigrahi, Inusha; Sharma, Maryada; Chaudhry, Chakshu; Garg, Mahak: TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
Supplementary Material

Publikationsdatum: 27 April 2023

Review Article

Finsterer, Josef: Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A

Publikationsdatum: 31 März 2023

Case-Based Review

Arora, Veronica; Takkar, Aashita; Dubey, Sudhisha; Gupta, Deepti; Saxena, Renu; Verma, I.C: CDKN1C-Related Beckwith-Wiedemann Syndrome: First Patient from India

Publikationsdatum: 01 Dezember 2022

Case-Based Review

Kósa, Magdolna; Horváth, Emese; Kalmár, Tibor; Maróti, Zoltán; Földesi, Imre; Bereczki, Csaba: A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases
Supplementary Material

Publikationsdatum: 01 November 2022

Case-Based Review

Kesavelu, Dhanasekhar; Valliyappan, Soundaram; Nalliannan, Sarah; Pande, Priyadarshini; Mahalingam, Subathra: LPL Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19

Publikationsdatum: 10 Oktober 2022

Case-Based Review

Mattia, Donald; Lindblade, Christopher; Oatman, Oliver; Prakash, Supraja; Grebe, Theresa: Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management