Journal of Pediatric Genetics

Ausgabe 01 · März 2024 · Kostenlose Probeausgabe

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Contributing Reviewers
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Contributing Reviewers in 2023

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Original Article
001
Al-Kasbi, Ghalia; Al-Murshedi, Fathiya; Al-Futaisi, Amna; Al-Jabry, Tariq; Zadjali, Fahad; Al-Yahyaee, Said; Al-Maawali, Almundher: Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (ASNS) Gene

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006
Kaur, Anupriya; Chaudhry, Chakshu; Kaur, Parminder; Daniel, Roshan; Srivastava, Priyanka: Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy

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015
Belghiti, Hanae Daha; Abbassi, Meriame; Sayel, Hanane; Ahakoud, Mohamed; El Makhzen, Badr Eddine; Lee, Norman; Russo, Silvia; Chaouki, Sana; Bouguenouch, Laila: Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype–Genotype Correlation in 97 Patients with Motor Developmental Delay

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022
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

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029
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

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Case-Based Review
035
Jain, Geetanjali; Das, Gourab; Malhotra, Rakhi; Ramchandran, Sateesh; Phani, Nagaraja M.; Appaswamy, Giridharan; Sridharan, Upasana; Dwivedi, Aradhana: Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

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043
de Brito Chagas, Joana; Cordinhã, Carolina; do Carmo, Carmen; Alves, Cristina; Heath, Karen E.; Sousa, Sérgio B.; Gomes, Clara: Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population

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050
Aylan Gelen, Sema; Kara, Bülent; Eser Şimsek, Isil; Güngör, Mesut; Zengin, Emine; Sarper, Nazan: Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5

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057
de Souza, Mateus A.; Hartmann, Jéssica K.; Zottis, Laira F. F.; Gama, Thiago K. K.; Rosa, Ernani B. da; Zen, Paulo R. G.; Rosa, Rafael F. M.: Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

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062
Nilay, Mayank; Rawool, Anup; Mandal, Kausik: Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant

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069
Öztürk, Özden; Bagis, Haydar; Bolu, Semih: Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

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