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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. [electronic resource] by
- Jenkins, Dagan
- Baynam, Gareth
- De Catte, Luc
- Elcioglu, Nursel
- Gabbett, Michael T
- Hudgins, Louanne
- Hurst, Jane A
- Jehee, Fernanda Sarquis
- Oley, Christine
- Wilkie, Andrew O M
Producer: 20110722
In:
Human mutation vol. 32
Availability: No items available.
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13.
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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. [electronic resource] by
- Trump, Natalie
- McTague, Amy
- Brittain, Helen
- Papandreou, Apostolos
- Meyer, Esther
- Ngoh, Adeline
- Palmer, Rodger
- Morrogh, Deborah
- Boustred, Christopher
- Hurst, Jane A
- Jenkins, Lucy
- Kurian, Manju A
- Scott, Richard H
Producer: 20170825
In:
Journal of medical genetics vol. 53
Availability: No items available.
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14.
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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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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. [electronic resource] by
- Wilkie, Andrew O M
- Byren, Jo C
- Hurst, Jane A
- Jayamohan, Jayaratnam
- Johnson, David
- Knight, Samantha J L
- Lester, Tracy
- Richards, Peter G
- Twigg, Stephen R F
- Wall, Steven A
Producer: 20100902
In:
Pediatrics vol. 126
Availability: No items available.
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16.
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. [electronic resource] by
- Klaassens, Merel
- Morrogh, Deborah
- Rosser, Elisabeth M
- Jaffer, Fatima
- Vreeburg, Maaike
- Bok, Levinus A
- Segboer, Tim
- van Belzen, Martine
- Quinlivan, Ros M
- Kumar, Ajith
- Hurst, Jane A
- Scott, Richard H
Producer: 20160106
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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17.
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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. [electronic resource] by
- Tessadori, Federico
- Giltay, Jacques C
- Hurst, Jane A
- Massink, Maarten P
- Duran, Karen
- Vos, Harmjan R
- van Es, Robert M
- Scott, Richard H
- van Gassen, Koen L I
- Bakkers, Jeroen
- van Haaften, Gijs
Producer: 20171102
In:
Nature genetics vol. 49
Availability: No items available.
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18.
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. [electronic resource] by
- Hamilton, Mark J
- Newbury-Ecob, Ruth
- Holder-Espinasse, Muriel
- Yau, Shu
- Lillis, Suzanne
- Hurst, Jane A
- Clement, Emma
- Reardon, William
- Joss, Shelagh
- Hobson, Emma
- Blyth, Moira
- Al-Shehhi, Maryam
- Lynch, Sally A
- Suri, Mohnish
Producer: 20170206
In:
Clinical dysmorphology vol. 25
Availability: No items available.
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19.
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis. [electronic resource] by
- Wilkie, Andrew O M
- Bochukova, Elena G
- Hansen, Ruth M S
- Taylor, Indira B
- Rannan-Eliya, Sahan V
- Byren, Jo C
- Wall, Steven A
- Ramos, Lina
- Venâncio, Margarida
- Hurst, Jane A
- O'rourke, Anthony W
- Williams, Louise J
- Seller, Anneke
- Lester, Tracy
Producer: 20071109
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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20.
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Clinical dividends from the molecular genetic diagnosis of craniosynostosis. [electronic resource] by
- Wilkie, Andrew O M
- Bochukova, Elena G
- Hansen, Ruth M S
- Taylor, Indira B
- Rannan-Eliya, Sahan V
- Byren, Jo C
- Wall, Steven A
- Ramos, Lina
- Venâncio, Margarida
- Hurst, Jane A
- O'Rourke, Anthony W
- Williams, Louise J
- Seller, Anneke
- Lester, Tracy
Producer: 20070220
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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