Search Results - "exome sequencing"

Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

Subjects: “…exome sequencing…”
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Pharmacogenomics and Personalized Medicine

Subjects: “…whole exome sequencing…”
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Multimodality Treatments in Metastatic Gastric Cancer

Subjects: “…exome sequencing…”
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EmbryoGenetics

Subjects: “…whole exome sequencing…”
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Genetic Testing for Rare Diseases

Subjects: “…whole exome sequencing…”
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Genetics and Genomics of Pulmonary Arterial Hypertension

Subjects: “…exome sequencing…”
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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020

Subjects: “…exome sequencing…”
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Newborn Screening in Japan

Subjects: “…whole-exome sequencing…”
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Characterization and Clinical Management of Dilated Cardiomyopathy

Subjects: “…whole exome sequencing…”
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Targeted Cancer Therapy and Mechanisms of Resistance

Subjects: “…exome sequencing…”
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Precision Medicine in Solid Tumors

Subjects: “…whole-exome sequencing…”
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Optic Neuropathies Current and Future Strategies for Optic Nerve Protection and Repair

Subjects: “…whole exome sequencing…”
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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019

Subjects: “…whole-exome sequencing…”
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A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder

Subjects: “…whole exome sequencing…”
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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

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Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre by Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman

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A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome by Jing Chen, Zhongmin Xia, Yulin Zhou, Xiaomin Ma, Xudong Wang, Qiwei Guo

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Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report by Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu

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Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency by Beili Chen, Lin Li, Jing Wang, Tengyan Li, Hong Pan, Beihong Liu, Yiran Zhou, Yunxia Cao, Binbin Wang

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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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