Results
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7201.
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7202.
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7203.
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7204.
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7205.
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7206.
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7207.
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Rearrangement structure-independent strategy of CNV breakpoint analysis. [electronic resource] by
- Xiao, Jianqiu
- Zhang, Ling
- Wang, Jingmin
- Jiang, Yuwu
- Jin, Lirong
- Lu, Jianqi
- Jin, Li
- Zhong, Chunjiu
- Xu, Xiangmin
- Zhang, Feng
Producer: 20141117
In:
Molecular genetics and genomics : MGG vol. 289
Availability: No items available.
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7208.
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7209.
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Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective. [electronic resource] by
- Karakaş, Zeynep
- Koç, Begüm
- Temurhan, Sonay
- Elgün, Tuğba
- Karaman, Serap
- Asker, Gamze
- Gençay, Genco
- Timur, Çetin
- Yıldırmak, Zeynep Yıldız
- Celkan, Tiraje
- Devecioğlu, Ömer
- Aydın, Filiz
Producer: 20170118
In:
Turkish journal of haematology : official journal of Turkish Society of Haematology vol. 32
Availability: No items available.
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7210.
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7211.
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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. [electronic resource] by
- Siggs, Owen M
- Javadiyan, Shari
- Sharma, Shiwani
- Souzeau, Emmanuelle
- Lower, Karen M
- Taranath, Deepa A
- Black, Jo
- Pater, John
- Willoughby, John G
- Burdon, Kathryn P
- Craig, Jamie E
Producer: 20170912
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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7212.
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Potential steps in the evolution of a fused trimeric all-β dUTPase involve a catalytically competent fused dimeric intermediate. [electronic resource] by
- Benedek, András
- Horváth, András
- Hirmondó, Rita
- Ozohanics, Olivér
- Békési, Angéla
- Módos, Károly
- Révész, Ágnes
- Vékey, Károly
- Nagy, Gergely N
- Vértessy, Beáta G
Producer: 20170626
In:
The FEBS journal vol. 283
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7213.
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7214.
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7215.
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Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. [electronic resource] by
- Kohda, Masakazu
- Kumamoto, Kensuke
- Eguchi, Hidetaka
- Hirata, Tomoko
- Tada, Yuhki
- Tanakaya, Kohji
- Akagi, Kiwamu
- Takenoshita, Seiichi
- Iwama, Takeo
- Ishida, Hideyuki
- Okazaki, Yasushi
Producer: 20170925
In:
Familial cancer vol. 15
Availability: No items available.
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7216.
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7217.
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Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction. [electronic resource] by
- Petre, Graciane
- Lorès, Patrick
- Sartelet, Hervé
- Truffot, Aurélie
- Poreau, Brice
- Brandeis, Sandrine
- Martinez, Guillaume
- Satre, Véronique
- Harbuz, Radu
- Ray, Pierre F
- Amblard, Florence
- Devillard, Françoise
- Vieville, Gaëlle
- Berger, Francois
- Jouk, Pierre-Simon
- Vaiman, Daniel
- Touré, Aminata
- Coutton, Charles
- Bidart, Marie
Producer: 20191114
In:
Clinical genetics vol. 94
Availability: No items available.
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7218.
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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. [electronic resource] by
- Oda, Yoichiro
- Uchiyama, Yuri
- Motomura, Ai
- Fujita, Atsushi
- Azuma, Yoshiteru
- Harita, Yutaka
- Mizuguchi, Takeshi
- Yanagi, Kumiko
- Ogata, Hiroko
- Hata, Kenichiro
- Kaname, Tadashi
- Matsubara, Yoichi
- Wakui, Keiko
- Matsumoto, Naomichi
Producer: 20200514
In:
Journal of human genetics vol. 64
Availability: No items available.
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7219.
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7220.
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Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. [electronic resource] by
- Odoardi, Francesca
- Rana, Michele
- Broccolini, Aldobrando
- Mirabella, Massimiliano
- Modoni, Anna
- D'Amico, Adele
- Papacci, Manuela
- Tonali, Pietro
- Servidei, Serenella
- Silvestri, Gabriella
Producer: 20040106
In:
American journal of medical genetics. Part A vol. 118A
Availability: No items available.
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