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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. [electronic resource] by
- Choi, Yo Jun
- Halbritter, Jan
- Braun, Daniela A
- Schueler, Markus
- Schapiro, David
- Rim, John Hoon
- Nandadasa, Sumeda
- Choi, Won-Il
- Widmeier, Eugen
- Shril, Shirlee
- Körber, Friederike
- Sethi, Sidharth K
- Lifton, Richard P
- Beck, Bodo B
- Apte, Suneel S
- Gee, Heon Yung
- Hildebrandt, Friedhelm
Producer: 20191104
In:
American journal of human genetics vol. 104
Availability: No items available.
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86.
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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. [electronic resource] by
- Sanchez-Navarro, Iker
- R J da Silva, Luciana
- Blanco-Kelly, Fiona
- Zurita, Olga
- Sanchez-Bolivar, Noelia
- Villaverde, Cristina
- Lopez-Molina, Maria Isabel
- Garcia-Sandoval, Blanca
- Tahsin-Swafiri, Saoud
- Minguez, Pablo
- Riveiro-Alvarez, Rosa
- Lorda, Isabel
- Sanchez-Alcudia, Rocío
- Perez-Carro, Raquel
- Valverde, Diana
- Liu, Yichuan
- Tian, Lifeng
- Hakonarson, Hakon
- Avila-Fernandez, Almudena
- Corton, Marta
- Ayuso, Carmen
Producer: 20191007
In:
Scientific reports vol. 8
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. [electronic resource] by
- Nikopoulos, Konstantinos
- Cisarova, Katarina
- Quinodoz, Mathieu
- Koskiniemi-Kuendig, Hanna
- Miyake, Noriko
- Farinelli, Pietro
- Rehman, Atta Ur
- Khan, Muhammad Imran
- Prunotto, Andrea
- Akiyama, Masato
- Kamatani, Yoichiro
- Terao, Chikashi
- Miya, Fuyuki
- Ikeda, Yasuhiro
- Ueno, Shinji
- Fuse, Nobuo
- Murakami, Akira
- Wada, Yuko
- Terasaki, Hiroko
- Sonoda, Koh-Hei
- Ishibashi, Tatsuro
- Kubo, Michiaki
- Cremers, Frans P M
- Kutalik, Zoltán
- Matsumoto, Naomichi
- Nishiguchi, Koji M
- Nakazawa, Toru
- Rivolta, Carlo
Producer: 20190827
In:
Nature communications vol. 10
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96.
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Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling. [electronic resource] by
- Nevers, Yannis
- Prasad, Megana K
- Poidevin, Laetitia
- Chennen, Kirsley
- Allot, Alexis
- Kress, Arnaud
- Ripp, Raymond
- Thompson, Julie D
- Dollfus, Hélène
- Poch, Olivier
- Lecompte, Odile
Producer: 20180201
In:
Molecular biology and evolution vol. 34
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97.
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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. [electronic resource] by
- Kang, Hee Gyung
- Lee, Hyun Kyung
- Ahn, Yo Han
- Joung, Je-Gun
- Nam, Jaeyong
- Kim, Nayoung K D
- Ko, Jung Min
- Cho, Min Hyun
- Shin, Jae Il
- Kim, Joon
- Park, Hye Won
- Park, Young Seo
- Ha, Il-Soo
- Chung, Woo Yeong
- Lee, Dae-Yeol
- Kim, Su Young
- Park, Woong Yang
- Cheong, Hae Il
Producer: 20180115
In:
Experimental & molecular medicine vol. 48
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98.
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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. [electronic resource] by
- Quélin, Chloé
- Loget, Philippe
- Boutaud, Lucile
- Elkhartoufi, Nadia
- Milon, Joelle
- Odent, Sylvie
- Fradin, Mélanie
- Demurger, Florence
- Pasquier, Laurent
- Thomas, Sophie
- Attié-Bitach, Tania
Producer: 20190520
In:
American journal of medical genetics. Part A vol. 176
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99.
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RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits. [electronic resource] by
- Lara Ordónez, Antonio Jesús
- Fernández, Belén
- Fdez, Elena
- Romo-Lozano, María
- Madero-Pérez, Jesús
- Lobbestael, Evy
- Baekelandt, Veerle
- Aiastui, Ana
- López de Munaín, Adolfo
- Melrose, Heather L
- Civiero, Laura
- Hilfiker, Sabine
Producer: 20200526
In:
Human molecular genetics vol. 28
Availability: No items available.
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100.
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Investigation on Ciliary Functionality of Different Airway Epithelial Cell Lines in Three-Dimensional Cell Culture. [electronic resource] by
- Lodes, Nina
- Seidensticker, Katharina
- Perniss, Alexander
- Nietzer, Sarah
- Oberwinkler, Heike
- May, Tobias
- Walles, Thorsten
- Hebestreit, Helge
- Hackenberg, Stephan
- Steinke, Maria
Producer: 20210528
In:
Tissue engineering. Part A vol. 26
Availability: No items available.
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