Results
|
|
101.
|
|
|
|
102.
|
|
|
|
103.
|
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome? [electronic resource] by
- Jaron, R
- Rosenfeld, N
- Zahdeh, F
- Carmi, S
- Beni-Adani, L
- Doviner, V
- Picard, E
- Segel, R
- Zeligson, S
- Carmel, L
- Renbaum, P
- Levy-Lahad, E
Producer: 20170707
In:
Clinical genetics vol. 90
Availability: No items available.
|
|
|
104.
|
Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells. [electronic resource] by
- May-Simera, Helen Louise
- Wan, Qin
- Jha, Balendu Shekhar
- Hartford, Juliet
- Khristov, Vladimir
- Dejene, Roba
- Chang, Justin
- Patnaik, Sarita
- Lu, Quanlong
- Banerjee, Poulomi
- Silver, Jason
- Insinna-Kettenhofen, Christine
- Patel, Dishita
- Lotfi, Mostafa
- Malicdan, May
- Hotaling, Nathan
- Maminishkis, Arvydas
- Sridharan, Rupa
- Brooks, Brian
- Miyagishima, Kiyoharu
- Gunay-Aygun, Meral
- Pal, Rajarshi
- Westlake, Christopher
- Miller, Sheldon
- Sharma, Ruchi
- Bharti, Kapil
Producer: 20190327
In:
Cell reports vol. 22
Availability: No items available.
|
|
|
105.
|
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. [electronic resource] by
- Boczek, Nicole J
- Hopp, Katharina
- Benoit, Lacey
- Kraft, Daniel
- Cousin, Margot A
- Blackburn, Patrick R
- Madsen, Charles D
- Oliver, Gavin R
- Nair, Asha A
- Na, Jie
- Bianchi, Diana W
- Beek, Geoffrey
- Harris, Peter C
- Pichurin, Pavel
- Klee, Eric W
Producer: 20190328
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
|
|
|
106.
|
|
|
|
107.
|
Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients. [electronic resource] by
- Deng, Wen-Li
- Gao, Mei-Ling
- Lei, Xin-Lan
- Lv, Ji-Neng
- Zhao, Huan
- He, Kai-Wen
- Xia, Xi-Xi
- Li, Ling-Yun
- Chen, Yu-Chen
- Li, Yan-Ping
- Pan, Deng
- Xue, Tian
- Jin, Zi-Bing
Producer: 20190423
In:
Stem cell reports vol. 10
Availability: No items available.
|
|
|
108.
|
Resting cells rely on the DNA helicase component MCM2 to build cilia. [electronic resource] by
- Casar Tena, Teresa
- Maerz, Lars D
- Szafranski, Karol
- Groth, Marco
- Blätte, Tamara J
- Donow, Cornelia
- Matysik, Sabrina
- Walther, Paul
- Jeggo, Penelope A
- Burkhalter, Martin D
- Philipp, Melanie
Producer: 20190822
In:
Nucleic acids research vol. 47
Availability: No items available.
|
|
|
109.
|
|
|
|
110.
|
|
|
|
111.
|
|
|
|
112.
|
|
|
|
113.
|
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. [electronic resource] by
- Schrauwen, Isabelle
- Giese, Arnaud Pj
- Aziz, Abdul
- Lafont, David Tino
- Chakchouk, Imen
- Santos-Cortez, Regie Lyn P
- Lee, Kwanghyuk
- Acharya, Anushree
- Khan, Falak Sher
- Ullah, Asmat
- Nickerson, Deborah A
- Bamshad, Michael J
- Ali, Ghazanfar
- Riazuddin, Saima
- Ansar, Muhammad
- Ahmad, Wasim
- Ahmed, Zubair M
- Leal, Suzanne M
Producer: 20200527
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 34
Availability: No items available.
|
|
|
114.
|
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. [electronic resource] by
- Geoffroy, Véronique
- Stoetzel, Corinne
- Scheidecker, Sophie
- Schaefer, Elise
- Perrault, Isabelle
- Bär, Séverine
- Kröll, Ariane
- Delbarre, Marion
- Antin, Manuela
- Leuvrey, Anne-Sophie
- Henry, Charline
- Blanché, Hélène
- Decker, Eva
- Kloth, Katja
- Klaus, Günter
- Mache, Christoph
- Martin-Coignard, Dominique
- McGinn, Steven
- Boland, Anne
- Deleuze, Jean-François
- Friant, Sylvie
- Saunier, Sophie
- Rozet, Jean-Michel
- Bergmann, Carsten
- Dollfus, Hélène
- Muller, Jean
Producer: 20190614
In:
Human mutation vol. 39
Availability: No items available.
|
|
|
115.
|
|
|
|
116.
|
|
|
|
117.
|
|
|
|
118.
|
|
|
|
119.
|
|
|
|
120.
|
|