Results
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1561.
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1562.
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1569.
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1570.
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1571.
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IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. [electronic resource] by
- Chen, Xue
- Wang, Xiaoguang
- Jiang, Chao
- Xu, Min
- Liu, Yang
- Qi, Rui
- Qi, Xiaolong
- Sun, Xiantao
- Xie, Ping
- Liu, Qinghuai
- Yan, Biao
- Sheng, Xunlun
- Zhao, Chen
Producer: 20190419
In:
Investigative ophthalmology & visual science vol. 59
Availability: No items available.
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1572.
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1573.
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1574.
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1575.
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1576.
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Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). [electronic resource] by
- Will, Anja J
- Cova, Giulia
- Osterwalder, Marco
- Chan, Wing-Lee
- Wittler, Lars
- Brieske, Norbert
- Heinrich, Verena
- de Villartay, Jean-Pierre
- Vingron, Martin
- Klopocki, Eva
- Visel, Axel
- Lupiáñez, Darío G
- Mundlos, Stefan
Producer: 20171024
In:
Nature genetics vol. 49
Availability: No items available.
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1577.
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1578.
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. [electronic resource] by
- Radhakrishna, U
- Bornholdt, D
- Scott, H S
- Patel, U C
- Rossier, C
- Engel, H
- Bottani, A
- Chandal, D
- Blouin, J L
- Solanki, J V
- Grzeschik, K H
- Antonarakis, S E
Producer: 19991004
In:
American journal of human genetics vol. 65
Availability: No items available.
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1579.
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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. [electronic resource] by
- Johnston, Jennifer J
- Olivos-Glander, Isabelle
- Turner, Joyce
- Aleck, Kyrieckos
- Bird, Lynne M
- Mehta, Lakshmi
- Schimke, R Neil
- Heilstedt, Heidi
- Spence, J Edward
- Blancato, Jan
- Biesecker, Leslie G
Producer: 20040728
In:
American journal of medical genetics. Part A vol. 123A
Availability: No items available.
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1580.
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Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. [electronic resource] by
- Debeer, Philippe
- Peeters, H
- Driess, S
- De Smet, L
- Freese, K
- Matthijs, G
- Bornholdt, D
- Devriendt, K
- Grzeschik, K-H
- Fryns, J-P
- Kalff-Suske, M
Producer: 20040210
In:
American journal of medical genetics. Part A vol. 120A
Availability: No items available.
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