Journal of pediatric genetics

Keyphrases

Publications

volume 13, number 3, 2024

Hüseyin Çaksen
Retraction Note: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 13 (3) (2024)
Hüseyin Çaksen
Retraction Note: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome? Journal of pediatric genetics 13 (3) (2024)
Hüseyin Çaksen
Retraction Note: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 13 (3) (2024)
Hüseyin Çaksen
Retraction Note: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome? Journal of pediatric genetics 13 (3) (2024)
Hüseyin Çaksen
Retraction Note: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder. Journal of pediatric genetics 13 (3) (2024)
Hüseyin Çaksen
Retraction Note: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder. Journal of pediatric genetics 13 (3) (2024)

volume 12, number 4, 2024

Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1 . Journal of pediatric genetics 12 (4) (2024)

volume 13, number 1, 2023

Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)

volume 13, number 3, 2023

Shantala J, Zalak Upadhyay, Vani H N, Santhosh Olety Sathyanarayana, Raghupathy Palany, Shruthi J
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome. Journal of pediatric genetics 13 (3) (2023)
Shantala J, Zalak Upadhyay, Vani H N, Santhosh Olety Sathyanarayana, Raghupathy Palany, Shruthi J
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome. Journal of pediatric genetics 13 (3) (2023)
Aaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, Fatima Al Amrani, Ashwaq Al Maimani, Nabil Al Maki, Nadia Al Hashmi
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. Journal of pediatric genetics 13 (3) (2023)
Suttipong Wacharasindhu, Chupong Ittiwut, Rungnapa Ittiwut, Suphab Aroonparkmongkol, Kanya Suphapeetiporn
A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD. Journal of pediatric genetics 13 (3) (2023)
Akif Ayaz, Zeynep Doğru, Kıvanç Kök, Nihan Bayram, Yöntem Yaman, Abdullah Hüseyin Köseoğlu, Türkan Yiğitbaşı, Aslı Güner Öztürk Demir, Elçin Yüksel, Burcu Dundar, Erdal Fırat Çaralan, Serdar Nepesov, Murat Elli
A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3 . Journal of pediatric genetics 13 (3) (2023)
Aaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, Fatima Al Amrani, Ashwaq Al Maimani, Nabil Al Maki, Nadia Al Hashmi
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. Journal of pediatric genetics 13 (3) (2023)
Suttipong Wacharasindhu, Chupong Ittiwut, Rungnapa Ittiwut, Suphab Aroonparkmongkol, Kanya Suphapeetiporn
A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD. Journal of pediatric genetics 13 (3) (2023)
Akif Ayaz, Zeynep Doğru, Kıvanç Kök, Nihan Bayram, Yöntem Yaman, Abdullah Hüseyin Köseoğlu, Türkan Yiğitbaşı, Aslı Güner Öztürk Demir, Elçin Yüksel, Burcu Dundar, Erdal Fırat Çaralan, Serdar Nepesov, Murat Elli
A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3 . Journal of pediatric genetics 13 (3) (2023)

volume 12, number 2, 2023

Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review. Journal of pediatric genetics 12 (2) (2023)
Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review. Journal of pediatric genetics 12 (2) (2023)
Hüseyin Çaksen
Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 12 (2) (2023)
Hüseyin Çaksen
Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 12 (2) (2023)
Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review. Journal of pediatric genetics 12 (2) (2023)
Hüseyin Çaksen
Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 12 (2) (2023)
Hüseyin Çaksen
Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza
Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)
Bruna Lixinski Diniz, Desireé Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. Journal of pediatric genetics 12 (2) (2023)

volume 12, number 3, 2023

Hüseyin Çaksen
A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome? Journal of pediatric genetics 12 (3) (2023)
Mark Lubinsky
Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive". Journal of pediatric genetics 12 (3) (2023)
Nejmiye Akkus, Tuğba Akın Duman
First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome. Journal of pediatric genetics 12 (3) (2023)

volume 12, number 4, 2023

Marisol Ibarra-Ramírez, Luis Daniel Campos-Acevedo, Laura Elia Martínez-de-Villarreal
Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. Journal of pediatric genetics 12 (4) (2023)
Marisol Ibarra-Ramírez, Luis Daniel Campos-Acevedo, Laura Elia Martínez-de-Villarreal
Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. Journal of pediatric genetics 12 (4) (2023)
Elizabeth Mary John, Sajina Sathyan, Femitha Pournami, Ajai Kumar Prithvi, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain
CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease. Journal of pediatric genetics 12 (4) (2023)
Marisol Ibarra-Ramírez, Luis Daniel Campos-Acevedo, Laura Elia Martínez-de-Villarreal
Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. Journal of pediatric genetics 12 (4) (2023)
Elizabeth Mary John, Sajina Sathyan, Femitha Pournami, Ajai Kumar Prithvi, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain
CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease. Journal of pediatric genetics 12 (4) (2023)
Elizabeth Mary John, Sajina Sathyan, Femitha Pournami, Ajai Kumar Prithvi, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain
CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease. Journal of pediatric genetics 12 (4) (2023)

volume 13, number 3, 2022

Seema Thakur, Preeti Paliwal, Rajni Farmania, Vipin Khandelwal, Vivek Garg
Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions? Journal of pediatric genetics 13 (3) (2022)
Wison Laochareonsuk, Seksit Osatakul, Utcharee Intusoma, Wanwisa Maneechay, Surasak Sangkhathat
A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing. Journal of pediatric genetics 13 (3) (2022)
Khian Aun Tan, Hui Bein Chew, Yusnita Yacob, Teik-Beng Khoo
A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children. Journal of pediatric genetics 13 (3) (2022)
Radhapyari Lourembam, Manish Kumar Gupta, Poonam Sherwani, Prashant Kumar Verma
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima-Morton-Nance Syndrome from Asia. Journal of pediatric genetics 13 (3) (2022)
Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency. Journal of pediatric genetics 13 (3) (2022)
Millad Ghawil, Nesrin Ben Omar, Milad Doggah
Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients. Journal of pediatric genetics 13 (3) (2022)
Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal
Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency. Journal of pediatric genetics 13 (3) (2022)
Rosario Ramos Mejía, Mariana Del Pino, M Aza-Carmona, Silvina Abbate, María Gabriela Obregon, Karen E Heath, Virginia Fano
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome. Journal of pediatric genetics 13 (3) (2022)
Aakash Chandran Chidambaram, Kiruthiga Sugumar, Selvamanojkumar Sundaravel, Jaikumar Govindaswamy Ramamoorthy, Siddardha Bathula, Usha R Dutta
Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome. Journal of pediatric genetics 13 (3) (2022)
Khian Aun Tan, Hui Bein Chew, Yusnita Yacob, Teik-Beng Khoo
A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children. Journal of pediatric genetics 13 (3) (2022)