Search Results - "genetic testing"

A Pediatric Case of <i>COLQ</i>-Related Congenital Myasthenic Syndrome with Marked Fatigue by Takuya Horibe, Hideki Shimomura, Sachi Tokunaga, Naoko Taniguchi, Tomoko Lee, Shigemi Kimura, Yasuhiro Takeshima

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The awareness of the citizens of Swietokrzyskie Voivodeship on the genetic predisposition on cancer by Izabela Kamila Wojarska

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Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia by Musaad Abukhaled, Laila Alrakaf, Hesham Aldhalaan, Suad Al Yamani

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From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature by Nima Taghizadeh Mortezaei, Soha Mohammadi, Hassan Abolhassani, Sima Shokri, Mohammad Nabavi, Morteza Fallahpour, Mohammad Hassan Bemanian

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Atypical course of type 1 diabetes mellitus in a patient with Ollier's disease - a case report by Anna Kochanowska, Kinga Knop, Zuzanna Piasecka, Maria Kowalczuk, Grzegorz Rudzki

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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype by Silvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, Franco D'Alberton, Fulvia Baldinotti, Maria Adelaide Caligo, Giampiero I. Baroncelli, Diego G. Peroni

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A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone by Sejin Kim, Soyun Park, Jungeun Moon, Heungsik Kim, Seokjin Kang

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Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders by Zhu Xintong, Zhang Kexin, Wang Junwen, Wang Ziyi, Luo Na, Guo Hong

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Sport potenntialities of children according to the soviet school perspective by José Luís T. Carvalho, José Fernandes Filho

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Assessment of Tools to Diagnose Cancer in Patients with Early Stage Breast Cancer: A Systematic Review by Mohsen Pakdaman, Hamidreza Dehghan, Habibeh Ziadpoor, Firoozeh Abolhasanizade, Seyedeh Mahdieh Namayandeh

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Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure &ndash; narrative review of the literature &ndash; case report by Carvalho AAS, Silva VG, Zanoteli E, Feder D

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Finnish variety of congenital nephrotic syndrome in association with cytomegalovirus infection: Double jeopardy by Shraddha Lohia, Georgeena Elsa Jose, Prahlad D Pote

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A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins by Xiaofeng Lin, Wei Zhang, Ping Zhou

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Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease by Peng Gou, Jie Leng, Xinran Cheng, Jing Zhang

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Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII by Fengge Wang, Xuemei Jin, Yongning Zhu, Shuli Jiang, Xiaoyan Zhang, Yanping Wang, Dongmei Man, Fuling Wang

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Headache and <i>NOTCH3</i> Gene Variants in Patients with CADASIL by Oliwia Szymanowicz, Izabela Korczowska-Łącka, Bartosz Słowikowski, Małgorzata Wiszniewska, Ada Piotrowska, Ulyana Goutor, Paweł P. Jagodziński, Wojciech Kozubski, Jolanta Dorszewska

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From 'Me' to 'Us': solidarity and biocitizenship in the Brazilian cancer precision medicine innovation system by Maria Sharmila Alina de Sousa, Dante Marcello Claramonte Gallian, Rui Monteiro de Barros Maciel

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Advantages and limitations of QF-PCR analysis in invasive prenatal genetic diagnosis: a tertiary center experience from Turkey by Münip Akalın, Oya Demirci, Gizem Elif Dizdaroğulları, Erman Çiftçi, Sümeyra Oğuz, Ali Karaman

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A comprehensive review of orofacial cleft patients at a university hospital genetic department in the UK by Rajshree Jayarajan, Pradeep Vasudevan

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CONSIDERATION OF COCHLEAR IMPLANT INDICATIONS AND POSTIMPLANT EVOLUTION IN A CASE OF FLUCTUATING HEARING LOSS by Manolache Oana, Damean G., Marinescu B., Martu D., Cozma S.

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