Journal of Pediatric Genetics
Issue 04 · December 2024
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Review Article
253
Finsterer, Josef:
Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A
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Original Article
258
Dhiman, Shalini; Panigrahi, Inusha; Sharma, Maryada; Chaudhry, Chakshu; Garg, Mahak:
TWIST1
Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
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Supplementary Material
Supplementary Material
263
Zeylabi, Fatemeh; Jalali, Mohammad Taha; Kaydani, Gholam-Abbas; Jaseb, Kaveh; Saki, Najmaldin:
rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura
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272
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
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277
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 Türkiye
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283
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
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Supplementary Material
Supplementary Material
291
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
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300
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
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308
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
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Case-Based Review
315
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
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320
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
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Supplementary Material
Supplementary Material
326
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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330
Arora, Veronica; Takkar, Aashita; Dubey, Sudhisha; Gupta, Deepti; Saxena, Renu; Verma, I.C:
CDKN1C
-Related Beckwith-Wiedemann Syndrome: First Patient from India
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335
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
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