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Results for
""Exome Sequencing""[mesh_terms]

157 Results

Searching titles within these results

Genomics of benign adrenocortical tumors.

Anne Jouinot, Roberta Armignacco, Guillaume Assié

The Journal of steroid biochemistry and molecular biology 2020;193():105414

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Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Jennifer Schymick, Peter Leahy, Tina Cowan, Maura R Z Ruzhnikov, Ryan Gates, Liliana Fernandez, Gopal Pramanik, Vamsi Yarlagadda, Matthew Wheeler, Jonathan A Bernstein, Gregory M Enns, Chung Lee

American journal of medical genetics. Part A 2022;188(2):473-487

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Abstract

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Melissa T Carter, Sunita Venkateswaran, Gali Shapira-Zaltsberg, Jorge Davila, Peter Humphreys, Kristin D Kernohan, Kym M Boycott

Clinical genetics 2020;95(5):601-606

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Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

Danyang Li, Bingbo Zhou, Xinyuan Tian, Xue Chen, Yupei Wang, Shengju Hao, Chuan Zhang, Ling Hui

Molecular genetics & genomic medicine 2024;12(1):e2327

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New diagnostic and therapeutic modalities in neuromuscular disorders in children.

Mahesh Chikkannaiah, Irma Reyes

Current problems in pediatric and adolescent health care 2021;51(7):101033

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KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Dhanya Lakshmi Narayanan, Puneeth H Somashekar, Purvi Majethia, Anju Shukla

Clinical dysmorphology 2022;31(1):6-10

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SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.

Kalyan Mitra, Singh Rajender, Poonam Mehta, Shruti Sethi, Waseem Andrabi

Reproductive sciences (Thousand Oaks, Calif.) 2024;31(10):3102-3111

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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

Jennifer A Smith, Ani Manichaikul, Jennifer A Brody, Lawrence F Bielak, Joshua C Bis, Donna K Arnett, Gina M Peloso, Xiuqing Guo, Laura M Raffield, Colleen M Sitlani, Kent D Taylor, Jerome I Rotter, Stephen S Rich, Charles Kooperberg, Kenneth M Rice, Patricia A Peyser, Adolfo Correa, Leslie A Lange, Take Naseri, Muagututi'a Sefuiva Reupena, Donald W Bowden, Nicholette D Palmer, Xihao Li, Corbin Quick, Hufeng Zhou, Sheila M Gaynor, Yaowu Liu, Han Chen, Margaret Sunitha Selvaraj, Ryan Sun, Rounak Dey, John Blangero, Eric Boerwinkle, Brian E Cade, L Adrienne Cupples, Joanne E Curran, Paul S de Vries, Ravindranath Duggirala, Barry I Freedman, Harald H H Göring, Jeffrey Haessler, Rita R Kalyani, Brian G Kral, Lisa W Martin, Stephen T McGarvey, Braxton D Mitchell, May E Montasser, Alanna C Morrison, Jeffrey R O'Connell, Bruce M Psaty, Susan Redline, Alexander P Reiner, Ramachandran S Vasan, Cristen J Willer, James G Wilson, Lisa R Yanek, Wei Zhao, Pradeep Natarajan, Zilin Li, Xihong Lin

Nature genetics 2023;55(1):154-164

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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants.

Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B S Hedrich, Paul B Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J Buono, Ben Zeev Bruria, Michael G Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S Papacostas, Francesca Ragona, Tiziana Granata, Phillip S Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber

Neurology 2022;98(20):e2046-e2059

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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Seda Susgun, Yesim Kesim, Dovlat Khalilov, Nermin Gorkem Sirin, Hasim Gezegen, Baris Salman, Emrah Yucesan, Gulden Gokcay, Huseyin Kutay Korbeyli, Mehmet Cihan Balci, Sibel Aylin Ugur Iseri, Betul Baykan, Nerses Bebek

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023;44(7):2527-2540

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Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Bahadir M Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan

Clinical dysmorphology 2022;31(3):125-131

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Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

Ryan Cardenas, Peter Prinsley, Carl Philpott, Mahmood F Bhutta, Emma Wilson, Daniel S Brewer, Barbara A Jennings

PloS one 2023;18(3):e0272174

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Biallelic Mutations in Ubiquitin-Specific Peptidase 53 () Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.

Mukul Vij, Srinivas Sankaranarayanan

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2022;25(2):207-212

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Elucidation of Tumor-Stromal Heterogeneity and the Ligand-Receptor Interactome by Single-Cell Transcriptomics in Real-world Pancreatic Cancer Biopsies.

Jaewon J Lee, Vincent Bernard, Alexander Semaan, Maria E Monberg, Jonathan Huang, Bret M Stephens, Daniel Lin, Kimal I Rajapakshe, Brian R Weston, Manoop S Bhutani, Cara L Haymaker, Chantale Bernatchez, Cullen M Taniguchi, Anirban Maitra, Paola A Guerrero

Clinical cancer research : an official journal of the American Association for Cancer Research 2022;27(21):5912-5921

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Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A.

Zhijian Yang, Hongbo Xu, Lamei Yuan, Hao Deng, Peng Wang, Han Chen, Sheng Deng

Journal of the Chinese Medical Association : JCMA 2019;82(1):25-29

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Results: 1 – 15 / 157

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Results for ""Exome Sequencing""[mesh_terms]

Genomics of benign adrenocortical tumors.

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

New diagnostic and therapeutic modalities in neuromuscular disorders in children.

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants.

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

Biallelic Mutations in Ubiquitin-Specific Peptidase 53 () Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.

Elucidation of Tumor-Stromal Heterogeneity and the Ligand-Receptor Interactome by Single-Cell Transcriptomics in Real-world Pancreatic Cancer Biopsies.

Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A.

Results for
""Exome Sequencing""[mesh_terms]