exome sequencing

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1
Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn, Ivan K;Chan, Alice;Chen, Karin;Chou, Janet;Dorsey, Morna J;Hajjar, Joud;Jongco, Artemio M;Kel...
2019 the journal of allergy and clinical immunology DOI: S0091-6749(19)31245-... 324 views
2
Direct primary care-Where does integrated behavioral health fit?
Nielsen, Marci;
2019 families, systems & health : the journal of collab... DOI: 10.1037/fsh0000439 261 views
3
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum, Mirna;Bruel, Ange-Line;Crenshaw, Melissa L;Delanne, Julian;Wentzensen, Ingrid M;McWalter, Ki...
2020 american journal of medical genetics part a DOI: 10.1002/ajmg.a.61487 234 views
4
Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance.
Saunus, Jodi M;Quinn, Michael C J;Patch, Ann-Marie;Pearson, John V;Bailey, Peter J;Nones, Katia;McCa...
2015 the journal of pathology DOI: 10.1002/path.4583 264 views
5
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith, Hadley Stevens;Swint, John M;Lalani, Seema R;de Oliveira Otto, Marcia C;Yamal, Jose-Miguel;Ru...
2020 Genetics in medicine : official journal of the Ame... DOI: 10.1038/s41436-020-0... 254 views
6
When is the Promotion of Prenatal Testing for Selective Abortion Wrong?
Gomez, Javiera Perez;
2020 kennedy institute of ethics journal DOI: 10.1353/ken.2020.000... 312 views
7
Ethical Concerns with Applied Behavior Analysis for Autism Spectrum "Disorder".
Wilkenfeld, Daniel A;McCarthy, Allison M;
2020 kennedy institute of ethics journal DOI: 10.1353/ken.2020.000... 283 views
8
Contextual Injustice.
Ichikawa, Jonathan Jenkins;
2020 kennedy institute of ethics journal DOI: 10.1353/ken.2020.000... 240 views
9
trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome: first case report in the balkans
;Aleksandra Stajkovska;Sanja Mehandziska;Margarita Stavrevska;Kristina Jakovleva;Natasha Nikchevska;...
2018 chemical record (new york, ny) DOI: 10.3389/fgene.2018.0... 192 views
10
a chinese family with axenfeld-rieger syndrome: report of the clinical and genetic findings
;Da-Peng Sun;Yun-Hai Dai;Xiao-Jing Pan;Tao Shan;Dian-Qiang Wang;Peng Chen
2017 The Classical Review DOI: 10.18240/ijo.2017.06... 161 views
11
effect of next-generation exome sequencing depth for discovery of diagnostic variants
;Kyung Kim;Moon-Woo Seong;Won-Hyong Chung;Sung Sup Park;Sangseob Leem;Won Park;Jihyun Kim;KiYoung Le...
2015 Journal of environmental management DOI: 10.5808/GI.2015.13.2... 182 views
12
a combined linkage and exome sequencing analysis for electrocardiogram parameters in the erasmus rucphen family study
;Claudia Tamar Silva;Claudia Tamar Silva;Claudia Tamar Silva;Irina Zorkoltseva;Najaf Amin;Ayse Demir...
2016 chemical record (new york, ny) DOI: 10.3389/fgene.2016.0... 184 views
13
exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways
;Suleiman H Suleiman;Mahmoud E Koko;Wafaa H Nasir;Ommnyiah eElfateh;Ubai K Elgizouli;Mohammed O E Ab...
2015 chemical record (new york, ny) DOI: 10.3389/fgene.2015.0... 178 views
14
fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate
;AMIT KUMAR MITRA;Holly eStessman;Robert eSchaefer;Wen eWang;Chad eMyers;Brian eVan Ness;Soraya eBei...
2016 chemical record (new york, ny) DOI: 10.3389/fgene.2016.0... 239 views

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sanger sequencing genome sequencing genetic testing mendelian chromosomal microarray gene panel primary immunodeficiency tools variant interpretation intellectual disability kiaa1033/washc4 targeted therapy brain metastasis rna sequencing her2 her3 genomic signature health policy health economics neonatal intensive care unit