Results
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2641.
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2642.
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Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations. [electronic resource] by
- Balabanski, Lubomir
- Serbezov, Dimitar
- Nikolova, Dragomira
- Antonova, Olga
- Nesheva, Desislava
- Hammoudeh, Zora
- Vazharova, Radoslava
- Karachanak-Yankova, Sena
- Staneva, Rada
- Mihaylova, Marta
- Damyanova, Vera
- Hadjidekova, Savina
- Toncheva, Draga
Producer: 20201120
In:
Technology in cancer research & treatment vol. 19
Availability: No items available.
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2643.
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2644.
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Tumor specific methylome in Chinese high-grade serous ovarian cancer characterized by gene expression profile and tumor genotype. [electronic resource] by
- Song, Fangfang
- Li, Lian
- Zhang, Baifeng
- Zhao, Yanrui
- Zheng, Hong
- Yang, Meng
- Li, Xiangchun
- Tian, Jing
- Huang, Caiyun
- Liu, Luyang
- Wang, Qinghua
- Zhang, Wei
- Chen, Kexin
Producer: 20210210
In:
Gynecologic oncology vol. 158
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2645.
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2646.
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. [electronic resource] by
- Harripaul, R
- Vasli, N
- Mikhailov, A
- Rafiq, M A
- Mittal, K
- Windpassinger, C
- Sheikh, T I
- Noor, A
- Mahmood, H
- Downey, S
- Johnson, M
- Vleuten, K
- Bell, L
- Ilyas, M
- Khan, F S
- Khan, V
- Moradi, M
- Ayaz, M
- Naeem, F
- Heidari, A
- Ahmed, I
- Ghadami, S
- Agha, Z
- Zeinali, S
- Qamar, R
- Mozhdehipanah, H
- John, P
- Mir, A
- Ansar, M
- French, L
- Ayub, M
- Vincent, J B
Producer: 20190404
In:
Molecular psychiatry vol. 23
Availability: No items available.
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2647.
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2648.
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Elucidation of [electronic resource] by
- Higgins, Erin M
- Bos, J Martijn
- Mason-Suares, Heather
- Tester, David J
- Ackerman, Jaeger P
- MacRae, Calum A
- Sol-Church, Katia
- Gripp, Karen W
- Urrutia, Raul
- Ackerman, Michael J
Producer: 20190930
In:
JCI insight vol. 2
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2649.
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2650.
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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. [electronic resource] by
- Chérot, E
- Keren, B
- Dubourg, C
- Carré, W
- Fradin, M
- Lavillaureix, A
- Afenjar, A
- Burglen, L
- Whalen, S
- Charles, P
- Marey, I
- Heide, S
- Jacquette, A
- Heron, D
- Doummar, D
- Rodriguez, D
- Billette de Villemeur, T
- Moutard, M-L
- Guët, A
- Xavier, J
- Périsse, D
- Cohen, D
- Demurger, F
- Quélin, C
- Depienne, C
- Odent, S
- Nava, C
- David, V
- Pasquier, L
- Mignot, C
Producer: 20190911
In:
Clinical genetics vol. 93
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2651.
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2652.
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Genetic risk factors for VIPN in childhood acute lymphoblastic leukemia patients identified using whole-exome sequencing. [electronic resource] by
- Abaji, Rachid
- Ceppi, Francesco
- Patel, Swati
- Gagné, Vincent
- Xu, Chang J
- Spinella, Jean-François
- Colombini, Antonella
- Parasole, Rosanna
- Buldini, Barbara
- Basso, Giuseppe
- Conter, Valentino
- Cazzaniga, Giovanni
- Leclerc, Jean-Marie
- Laverdière, Caroline
- Sinnett, Daniel
- Krajinovic, Maja
Producer: 20190911
In:
Pharmacogenomics vol. 19
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2653.
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2654.
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. [electronic resource] by
- Monteiro, Fabiola P
- Curry, Cynthia J
- Hevner, Robert
- Elliott, Stephen
- Fisher, Jamie H
- Turocy, John
- Dobyns, William B
- Costa, Larissa A
- Freitas, Erika
- Kitajima, João Paulo
- Kok, Fernando
Producer: 20200930
In:
European journal of medical genetics vol. 63
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2655.
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Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension. [electronic resource] by
- Chida-Nagai, Ayako
- Shintani, Masaki
- Sato, Hiroki
- Nakayama, Tomotaka
- Nii, Masaki
- Akagawa, Hiroyuki
- Furukawa, Toru
- Rana, Amer
- Furutani, Yoshiyuki
- Inai, Kei
- Nonoyama, Shigeaki
- Nakanishi, Toshio
Producer: 20191112
In:
PloS one vol. 14
Availability: No items available.
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2656.
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2657.
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Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". [electronic resource] by
- Vahidnezhad, Hassan
- Youssefian, Leila
- Daneshpazhooh, Maryam
- Mahmoudi, Hamidreza
- Kariminejad, Ariana
- Fischer, Judith
- Christiansen, Julie
- Schneider, Holm
- Guy, Alyson
- Liu, Lu
- McGrath, John A
- Has, Cristina
- Uitto, Jouni
Producer: 20200511
In:
Matrix biology : journal of the International Society for Matrix Biology vol. 83
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2658.
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A Vietnamese human genetic variation database. [electronic resource] by
- Le, Vinh S
- Tran, Kien T
- Bui, Hoa T P
- Le, Huong T T
- Nguyen, Canh D
- Do, Duong H
- Ly, Ha T T
- Pham, Linh T D
- Dao, Lan T M
- Nguyen, Liem T
Producer: 20200309
In:
Human mutation vol. 40
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2659.
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2660.
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Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations. [electronic resource] by
- Guo, Wei
- Lai, Yuchen
- Yan, Zhiqiang
- Wang, Yuqian
- Nie, Yanli
- Guan, Shuo
- Kuo, Ying
- Zhang, Wenxin
- Zhu, Xiaohui
- Peng, Mei
- Zhi, Xu
- Wei, Yuan
- Yan, Liying
- Qiao, Jie
Producer: 20210722
In:
Human mutation vol. 41
Availability: No items available.
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