Search Results - "genetic testing"

Role of genes in oro-dental diseases by Kavitha B, Priyadharshini Vijayashree, Sivapathasundharam B, Saraswathi T

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Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia by Stefan Gysin, Peter Itin

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Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient by Jiqiang He, Ding Pan, Panfeng Wu, Juyu Tang

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Leprosy in the Guise of Skin Tuberculosis - Complexities of Diagnostics by V. G. Semyonova, A. E. Karamova, M. A. Nefyodova

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Familial Mediterranean fever: current perspectives by Sönmez HE, Batu ED, Özen S

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Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important by Han-Byeol Choi, Yoonju Na, Jiwon Lee, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jong-Won Kim, Jeong-Yi Kwon, Jeong-Yi Kwon

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Microcephaly, an etiopathogenic vision by Luis Eduardo Becerra-Solano, Leovigildo Mateos-Sánchez, Eunice López-Muñoz

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Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome by Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Jolan Eszter Walter, Emma Westermann-Clark, Emma Westermann-Clark

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Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability by Chunyan Jin, Hua Qian, Tianhui Xu, Jiao Chen, Xuefang Li, Zhiping Gu

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A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation by Sol Kang, Young Kyung Kang, Jun Ah Lee, Dong Ho Kim, Jung Sub Lim

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Clinical Case of Sarcoidosis as a Rare Cause of Lymphadenopathy in Preschool Child by Elena Y. Khorosheva, Elena B. Khramova, Natalya E. Gorohova, Natalya A. Mashkina, Nikolay V. Kozlov, Ksenia P. Kuzmicheva

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OVERVIEW OF CLINICAL AND BIOLOGICAL EVOLUTION IN A GROUP OF CHILDREN WITH THE DIAGNOSTIC OF CYSTIC FIBROSIS by Luminița Lazăr, Janine Lazăr, Eva Nemeș, B. Marin-Diu

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Whole genome sequencing in clinical practice by Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen

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Modern (rational) methods for detecting genetic features of athletes by A. V. Zholinsky, A. I. Kadykova, V. S. Feshchenko, M. G. Hovhannisyan, A. V. Zorenko, R. V. Deev

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Celiac disease in children - diagnosis in light of the current 2020 ESPGHAN guidelines by Piotr Sochal, Klaudyna Iwaszko-Sochal, Elżbieta Szczepaniak-Wójtowicz

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Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene by Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen

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A case for genomic medicine in South African paediatric patients with neuromuscular disease by Sharika V. Raga, Jo Madeleine Wilmshurst, Izelle Smuts, Surita Meldau, Soraya Bardien, Soraya Bardien, Maryke Schoonen, Francois Hendrikus van der Westhuizen

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Diagnosis and Management of Beckwith-Wiedemann Syndrome by Kathleen H. Wang, Jonida Kupa, Kelly A. Duffy, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish

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Cardiomyopathies in children by Young Mi Hong

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Fragile X Syndrome Secondary to in Vitro Fertilization with a Family Egg Donor, A Case Report and Review of the Literature by Laura Yuriko González- Teshima, César Payán-Gómez, Wilmar Saldarriaga

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