journal of pediatric genetics
DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
eFirst
Publication Date: 02 August 2022
Publication Date: 12 July 2022
Original Article
Sait, Haseena;
Srivastava, Somya;
Kumar, Somesh;
Varughese, Bijo;
Pandey, Manmohan;
Venkatramaiah, Manjunath;
Chaudhary, Parul;
Moirangthem, Amita;
Mandal, Kausik;
Kapoor, Seema:
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients
Publication Date: 11 July 2022
Publication Date: 27 June 2022
Publication Date: 15 June 2022
Publication Date: 20 May 2022
Publication Date: 05 May 2022
Publication Date: 02 May 2022
Publication Date: 10 February 2022
Publication Date: 12 January 2022
Publication Date: 07 January 2022
Publication Date: 06 January 2022
Publication Date: 24 December 2021
Publication Date: 14 December 2021
Publication Date: 13 December 2021
Publication Date: 10 December 2021
Case-Based Review
Ilhan, Ozkan;
Gumus, Evren;
Hakan, Nilay;
Istar, Hande;
Harmandar, Bugra;
Olgun, Hasim;
Karakus, Suleyman Cuneyt;
Cullu, Nesat;
Kohlhase, Juergen;
Sutherland, James D.;
Barrio, Rosa:
A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey
Publication Date: 06 December 2021
Publication Date: 16 November 2021
Publication Date: 11 November 2021
Publication Date: 09 November 2021
Publication Date: 02 November 2021
Publication Date: 29 October 2021
Publication Date: 25 October 2021
Publication Date: 19 October 2021
Publication Date: 08 October 2021
Publication Date: 31 August 2021
Publication Date: 20 August 2021
Case Based Review
Candelaria, Gabriela de Toledo Passos;
Antunes, Alexandre de A.;
Pastorino, Antonio C.;
Dorna, Mayra de B.;
Zanardo, Evelin A.;
Dias, Alexandre T.;
Sugayama, Sofia M. M.;
Odone-Filho, Vicente;
Kulikowski, Leslie D.;
Garanito, Marlene P.:
Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
Publication Date: 17 August 2021
Publication Date: 29 July 2021
Publication Date: 28 July 2021
Publication Date: 26 July 2021
Case Based Review
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:
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
Publication Date: 22 July 2021
Publication Date: 19 July 2021
Publication Date: 07 July 2021
Publication Date: 03 July 2021
Publication Date: 26 June 2021
Publication Date: 22 June 2021
Original Article
Gowda, Vykuntaraju K.;
Battina, Manojna;
Vegda, Hemadri;
Srinivasan, Varunvenkat M.;
Chikara, Surendra K.;
Mishra, Adrija;
Shivappa, Sanjay K.;
Benakappa, Naveen:
Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
Publication Date: 11 June 2021
Publication Date: 01 June 2021
Publication Date: 14 April 2021
Case Based Review
Palma, Carmen;
Patricia, Pérez Mohand;
Lezana, José M.;
Cruz, Jaime;
Quesada, Juan F.;
Vila, Sara;
Álvarez-Mora, Isabel;
Arteche-López, Ana;
Gómez-Manjón, Irene;
Sánchez, M. Teresa;
Gómez-Rodríguez, Maria José;
Sánchez, Jaime;
Moreno-García, Marta:
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
Publication Date: 12 April 2021
Publication Date: 01 April 2021
Publication Date: 10 March 2021
Original Article
Bhat, Maya Dattatraya;
Manjunath, Netravathi;
Kumari, Renu;
Faruq, Mohammed;
Pal, Pramod Kumar;
Prasad, Chandrajit;
Mundlamuri, Ravindranadh Chowdary;
Nalini, Atchayaram;
Udupi, Gautham Arunachal;
Baishya, Priyanka Priyadarshini;
Kulanthaivelu, Karthik:
Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene
Publication Date: 03 March 2021
Publication Date: 25 February 2021
Publication Date: 19 February 2021
Publication Date: 17 February 2021
Publication Date: 11 February 2021
Publication Date: 09 February 2021
Publication Date: 02 February 2021
Publication Date: 12 January 2021
Publication Date: 07 January 2021
Publication Date: 06 January 2021
Publication Date: 10 December 2020
Publication Date: 07 December 2020
Case Report
de Carvalho, Acácia Fernandes Lacerda;
Pitanga, Paula Monique Leite;
Alves, Esmeralda Santos;
Miguel, Diego Santana Chaves Geraldo;
Santo, Laila Damasceno Espirito;
de Araújo, Ana Eliete Fernandes;
Ornellas, Ana Carolina Pereira;
Toralles, Maria Betânia Pereira:
Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years
Publication Date: 02 December 2020
Publication Date: 23 November 2020
Publication Date: 19 November 2020
Publication Date: 09 November 2020
Publication Date: 26 October 2020
Publication Date: 19 October 2020
Publication Date: 15 October 2020
Publication Date: 08 October 2020
Publication Date: 05 October 2020
Publication Date: 23 September 2020
Publication Date: 04 December 2019