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Detection of structural mosaicism from targeted and whole-genome sequencing data. [electronic resource] by
- King, Daniel A
- Sifrim, Alejandro
- Fitzgerald, Tomas W
- Rahbari, Raheleh
- Hobson, Emma
- Homfray, Tessa
- Mansour, Sahar
- Mehta, Sarju G
- Shehla, Mohammed
- Tomkins, Susan E
- Vasudevan, Pradeep C
- Hurles, Matthew E
Producer: 20180523
In:
Genome research vol. 27
Availability: No items available.
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19.
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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. [electronic resource] by
- Hurst, Jane A
- Jenkins, Dagan
- Vasudevan, Pradeep C
- Kirchhoff, Maria
- Skovby, Flemming
- Rieubland, Claudine
- Gallati, Sabina
- Rittinger, Olaf
- Kroisel, Peter M
- Johnson, David
- Biesecker, Leslie G
- Wilkie, Andrew O M
Producer: 20111005
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. [electronic resource] by
- Parker, Michael J
- Fryer, Alan E
- Shears, Deborah J
- Lachlan, Katherine L
- McKee, Shane A
- Magee, Alex C
- Mohammed, Shehla
- Vasudevan, Pradeep C
- Park, Soo-Mi
- Benoit, Valérie
- Lederer, Damien
- Maystadt, Isabelle
- Study, Ddd
- FitzPatrick, David R
Producer: 20160614
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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