DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 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

Publication Date: 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

Publication Date: 10 August 2023

Letter to the Editor

John, Elizabeth Mary; Sathyan, Sajina; Pournami, Femitha; Prithvi, Ajai Kumar; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease

Publication Date: 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

Publication Date: 28 July 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

Publication Date: 21 July 2023

Review Article

Ibarra-Ramírez, Marisol; Campos-Acevedo, Luis Daniel; Martínez de Villarreal, Laura E.: Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

Publication Date: 27 April 2023

Review Article

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

Publication Date: 18 April 2023

Original Article

J., Shantala; Upadhyay, Zalak; N., Vani H.; Sathyanarayana, Santhosh Olety; Palany, Raghupathy; J., Shruthi: Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome

Publication Date: 31 March 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

Publication Date: 28 March 2023

Original Article

Pendleton, Katherine E.; Hernandez-Garcia, Andres; Lyu, Jennifer M.; Campbell, Ian M.; Shaw, Chad A.; Vogt, Julie; High, Frances A.; Donahoe, Patricia K.; Chung, Wendy K.; Scott, Daryl A.: FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

Publication Date: 20 March 2023

Original Article

Wacharasindhu, Suttipong; Ittiwut, Chupong; Ittiwut, Rungnapa; Aroonparkmongkol, Suphab; Suphapeetiporn, Kanya: A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD

Publication Date: 24 February 2023

Original Article

Al Balushi, Aaisha; Al Hinai, Mariya; Al Hosni, Alya; Al Amrani, Fatima; Al Maimani, Ashwaq; Al Maki, Nabil; Al Hashmi, Nadia: Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience

Publication Date: 22 December 2022

Original Article

Almarzooqi, Layla; Schmidt, Esther; Schmidt, Heinrich; Dubinski, Ilja: Abnormalities of the Eyelashes in Turner's Syndrome

Publication Date: 15 December 2022

Original Article

Chhajed, Monika; Gunasekaran, Pradeep Kumar; Bhanudeep, Singanamalla; Saini, Lokesh: Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature

Original Article

Ramos-Mejía, R; del Pino, M; Aza-Carmona, M; Abbate, S; Obregon, M G.; Heath, K E.; Fano, V: Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome

Publication Date: 01 December 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

Original Article

Demirhan, Osman; Hergüner, Özlem; Tunç, Erdal: A Cytogenetic Study of Turkish Children with Global Developmental Delay

Publication Date: 14 November 2022

Original Article

de Carvalho, Acacia Fernandes Lacerda; Alves, Esmeralda Santos; Pitanga, Paula Monique Leite; Ribeiro, Erlane Marques; Doriqui, Maria Juliana Rodovalho; Toralles, Maria Betânia Pereira; Topázio, Bianca Arcaro; dos Santos, Jéssica Fernandes; de Lima, Renata Lúcia Leite Ferreira; Kulikowski, Leslie Domenici; Acosta, Angelina Xavier: Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

Publication Date: 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
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