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Volume 09; Issue 02
Main
Journal of Pediatric Genetics
Volume 09; Issue 02
Journal of Pediatric Genetics
Volume 09; Issue 02
1
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature
Selvam, Pavalan
,
Singh, Shekhar
,
Jain, Angita
,
Atwal, Herjot
,
Atwal, Paldeep S.
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 132 KB
Your tags:
2020
2
Spastic Diplegia in a Haitian Girl with Angelman Syndrome
Latchman, Kumarie
,
Nieto-Moreno, Margarita
,
Alberola, Roberto Lopez
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 240 KB
Your tags:
2020
3
Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome
Speer, Rebecca R.
,
Ezeanya, Uzoamaka C.
,
Beaudoin, Sarah J.
,
Glass, Kristen M.
,
Oji-Mmuo, Christiana N.
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 152 KB
Your tags:
2020
4
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature
El-Bassyouni, Hala T.
,
Thomas, Manal M.
,
Tosson, Angie M.S.
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 280 KB
Your tags:
2020
5
HLA Polymorphisms and Food Allergy Predisposition
Kostara, Maria
,
Chondrou, Vasiliki
,
Sgourou, Argyro
,
Douros, Konstantinos
,
Tsabouri, Sophia
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 273 KB
Your tags:
2020
6
Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
Gupta, Neerja
,
Langeh, Nitika
,
Sridharan, Aparajit
,
Kabra, Madhulika
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 477 KB
Your tags:
2020
7
Familial Sleep Disorders in Unknown Genetic Syndrome
Lelii, Mara
,
Baggi, Elena
,
Senatore, Laura
,
Bedeschi, Maria Francesca
,
Dilena, Robertino
,
Iascone, Maria
,
Gangi, Silvana
,
Marchisio, Paola
,
Patria, Maria Francesca
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 154 KB
Your tags:
2020
8
Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis
Singh, Ankur
,
Prasad, Rajniti
,
Mishra, Om Prakash
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 136 KB
Your tags:
2020
9
Novel Pathogenic Variant in the Cys110 Residue: A GenotypeâPhenotype Report of a Patient with Norrie Disease
Garcha, Jaspreet
,
Jain, Angita
,
Atwal, Herjot
,
Sevlam, Pavalan
,
Atwal, Paldeep S.
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 91 KB
Your tags:
2020
10
8-Hydroxy-2'-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child
Bisht, Shilpa
,
Chawla, Bhavna
,
Dada, Rima
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 74 KB
Your tags:
2020
11
Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1âRelated Disease
Avnon, Tomer
,
Svirsky, Ran
,
Orr-Urtreger, Avi
,
Sagie, Liora
,
Fattal-Valevski, Aviva
,
Fellig, Yakov
,
Ben-Shachar, Shay
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 329 KB
Your tags:
2020
12
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)
Akyol Onder, Esra Nagehan
,
Ozkol, Mine
,
Nese, Nalan
,
Taneli, Can
,
Cankorur, Osman Orkun
,
Ozunan, Ipek
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 163 KB
Your tags:
2020
13
Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study
Maines, Evelina
,
Tadiotto, Elisa
,
Morandi, Grazia
,
Fedrizzi, Michela
,
Gaudino, Rossella
,
Cavarzere, Paolo
,
Guzzo, Alessandra
,
Antoniazzi, Franco
Journal:
Journal of Pediatric Genetics
Year:
2020
File:
PDF, 193 KB
Your tags:
2020
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