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1
Advancing genetic testing for deafness with genomic technology
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Advancing genetic testing for deafness with genomic technology

Shearer, A Eliot ; Black-Ziegelbein, E Ann ; Hildebrand, Michael S ; Eppsteiner, Robert W ; Ravi, Harini ; Joshi, Swati ; Guiffre, Angelica C ; Sloan, Christina M ; Happe, Scott ; Howard, Susanna D ; Novak, Barbara ; DeLuca, Adam P ; Taylor, Kyle R ; Scheetz, Todd E ; Braun, Terry A ; Casavant, Thomas L ; Kimberling, William J ; LeProust, Emily M ; Smith, Richard J H

Journal of medical genetics, 2013-09, Vol.50 (9), p.627-634 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
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A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome

Han, Rui ; Xia, Yan ; Liu, Zhijuan ; Wu, Shuang ; Ye, Erdengqieqieke ; Duan, Ling ; Ding, Jianbing ; La, Xiaolin

Medicine (Baltimore), 2021-06, Vol.100 (25), p.e24691-e24691 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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3
Comparison of ultraconserved elements (UCEs) to microsatellite markers for the study of avian hybrid zones: a test in Aphelocoma jays
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Comparison of ultraconserved elements (UCEs) to microsatellite markers for the study of avian hybrid zones: a test in Aphelocoma jays

Vinciguerra, Nicholas T ; Tsai, Whitney L E ; Faircloth, Brant C ; McCormack, John E

BMC research notes, 2019-07, Vol.12 (1), p.456-456, Article 456 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection
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Artigo
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Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection

Albert, F W ; Hodges, E ; Jensen, J D ; Besnier, F ; Xuan, Z ; Rooks, M ; Bhattacharjee, A ; Brizuela, L ; Good, J M ; Green, R E ; Burbano, H A ; Plyusnina, I Z ; Trut, L ; Andersson, L ; Schöneberg, T ; Carlborg, O ; Hannon, G J ; Pääbo, S

Heredity, 2011-09, Vol.107 (3), p.205-214 [Periódico revisado por pares]

England: Springer Nature B.V

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5
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
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Artigo
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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

SELMER, Kaja K ; GILFILLAN, Gregor D ; MUNTHE, Ludvig A ; BRAEKKEN, Sigrun K ; UNDLIEN, Dag E ; STRØMME, Petter ; LYLE, Robert ; HUGHES, Timothy ; HJORTHAUG, Hanne S ; BRANDAL, Kristin ; NAKKEN, Sigve ; MISCEO, Doriana ; EGELAND, Thore

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.58-63 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up
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C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up

Sethi, Sanjeev ; Fervenza, Fernando C. ; Zhang, Yuzhou ; Zand, Ladan ; Vrana, Julie A. ; Nasr, Samih H. ; Theis, Jason D. ; Dogan, Ahmet ; Smith, Richard J.H.

Kidney international, 2012-08, Vol.82 (4), p.465-473 [Periódico revisado por pares]

Basingstoke: Elsevier Inc

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7
Ancestral capture of syncytin-Car1, a fusogenic endogenous retroviral envelope gene involved in placentation and conserved in Carnivora
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Ancestral capture of syncytin-Car1, a fusogenic endogenous retroviral envelope gene involved in placentation and conserved in Carnivora

Cornelis, Guillaume ; Heidmann, Odile ; Bernard-Stoecklin, Sibylle ; Reynaud, Karine ; Véron, Géraldine ; Mulot, Baptiste ; Dupressoir, Anne ; Heidmann, Thierry

Proceedings of the National Academy of Sciences - PNAS, 2012-02, Vol.109 (7), p.E432-E441 [Periódico revisado por pares]

United States: National Acad Sciences

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8
Intratumoral Heterogeneity of ALK-Rearranged and ALK/EGFR Coaltered Lung Adenocarcinoma
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Artigo
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Intratumoral Heterogeneity of ALK-Rearranged and ALK/EGFR Coaltered Lung Adenocarcinoma

Cai, Weijing ; Lin, Dongmei ; Wu, Chunyan ; Li, Xuefei ; Zhao, Chao ; Zheng, Limou ; Chuai, Shannon ; Fei, Ke ; Zhou, Caicun ; Hirsch, Fred R

Journal of clinical oncology, 2015-11, Vol.33 (32), p.3701-3709 [Periódico revisado por pares]

United States: American Society of Clinical Oncology

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9
Identification of novel immune and barrier genes in atopic dermatitis by means of laser capture microdissection
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Artigo
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Identification of novel immune and barrier genes in atopic dermatitis by means of laser capture microdissection

Esaki, Hitokazu, MD ; Ewald, David A., MSc ; Ungar, Benjamin, BA ; Rozenblit, Mariya, BA ; Zheng, Xiuzhong, MSc ; Xu, Hui, MSc ; Estrada, Yeriel D., BS ; Peng, Xiangyu, MSc ; Mitsui, Hiroshi, MD, PhD ; Litman, Thomas, PhD ; Suárez-Fariñas, Mayte, PhD ; Krueger, James G., MD, PhD ; Guttman-Yassky, Emma, MD, PhD

Journal of allergy and clinical immunology, 2015-01, Vol.135 (1), p.153-163 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Exome sequencing generates high quality data in non-target regions
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Artigo
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Exome sequencing generates high quality data in non-target regions

Guo, Yan ; Long, Jirong ; He, Jing ; Li, Chung-I ; Cai, Qiuyin ; Shu, Xiao-Ou ; Zheng, Wei ; Li, Chun

BMC genomics, 2012-05, Vol.13 (1), p.194-194, Article 194 [Periódico revisado por pares]

England: BioMed Central Ltd

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