Search Results - "Medical genetics

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

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LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the MED12 mutation pattern by Akbari M, Yassaee F, Aminbeidokhti M, Abedin-Do A, Mirfakhraie R

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Search for Possible Associations of FTO Gene Polymorphic Variants with Metabolic Syndrome, Obesity and Body Mass Index in Schizophrenia Patients by Boiko AS, Pozhidaev IV, Paderina DZ, Bocharova AV, Mednova IA, Fedorenko OY, Kornetova EG, Loonen AJM, Semke AV, Bokhan NA, Ivanova SA

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China by Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

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Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report by Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali

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PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County by Agarwala Richa, O'Connell Jeffrey R, Pollin Toni I, Lee Woei-Jyh, Schäffer Alejandro A

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Klippel-Feil syndrome in an infant by Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang, Ana María González Anta

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Neuroaxonal Dystrophy by J Gordon Millichap

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Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidos... by Edina Poletto, Ursula Matte, Guilherme Baldo

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Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations by Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll

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NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report by Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu, Xiu Xu

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Cardiac manifestations of PRKAG2 mutation by Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali

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PBL Case on Child Abuse/Hemophilia A by Niels Larsen, Davendranand Sharma, Kalman Winston, Diana Callender, Yasmin Allison-Burnett, Patrick Goff

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Pharmacological Profile of Viltolarsen for the Treatment of Duchenne Muscular Dystrophy: A Japanese Experience by Roshmi RR, Yokota T

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Thalassemia PBL Case by Niels Larsen, Diana Callender, Kalman Winston

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Additional germline findings from a tumor profiling program by Neda Stjepanovic, Tracy L. Stockley, Philippe L. Bedard, Jeanna M. McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B. Leighl, Raymond Jang, Monika K. Krzyzanowska, Amit M. Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid, Lillian L. Siu, Raymond H. Kim

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Patient-controlled encrypted genomic data: an approach to advance clinical genomics by Trakadis Yannis J

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Steroid-resistant nephrotic syndrome: past and current perspectives by Nourbakhsh N, Mak RH

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A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD by Qian Wang, Wen Bin Wei, Xiang Yu Shi, Wei Ning Rong

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Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report by Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández

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