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Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. [electronic resource] by
- McKibbin, Martin
- Ali, Manir
- Mohamed, Moin D
- Booth, Adam P
- Bishop, Fiona
- Pal, Bishwanath
- Springell, Kelly
- Raashid, Yasmin
- Jafri, Hussain
- Inglehearn, Chris F
Producer: 20100127
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 128
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Umbilical vein oxytocin for the treatment of retained placenta (Release Study): a double-blind, randomised controlled trial. [electronic resource] by
- Weeks, Andrew D
- Alia, Godfrey
- Vernon, Gillian
- Namayanja, Annette
- Gosakan, Radhika
- Majeed, Tayyaba
- Hart, Anna
- Jafri, Hussain
- Nardin, Juan
- Carroli, Guillermo
- Fairlie, Fiona
- Raashid, Yasmin
- Mirembe, Florence
- Alfirevic, Zarko
Producer: 20100304
In:
Lancet (London, England) vol. 375
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. [electronic resource] by
- Szymanska, Katarzyna
- Berry, Ian
- Logan, Clare V
- Cousins, Simon Rr
- Lindsay, Helen
- Jafri, Hussain
- Raashid, Yasmin
- Malik-Sharif, Saghira
- Castle, Bruce
- Ahmed, Mushtag
- Bennett, Chris
- Carlton, Ruth
- Johnson, Colin A
Producer: 20130226
In:
Cilia vol. 1
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Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. [electronic resource] by
- Ali, Manir
- Buentello-Volante, Beatriz
- McKibbin, Martin
- Rocha-Medina, J Alberto
- Fernandez-Fuentes, Narcis
- Koga-Nakamura, Wilson
- Ashiq, Aruna
- Khan, Kamron
- Booth, Adam P
- Williams, Grange
- Raashid, Yasmin
- Jafri, Hussain
- Rice, Aine
- Inglehearn, Chris F
- Zenteno, Juan Carlos
Producer: 20101112
In:
Molecular vision vol. 16
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Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. [electronic resource] by
- Ali, Manir
- Hocking, Paul M
- McKibbin, Martin
- Finnegan, Sorcha
- Shires, Mike
- Poulter, James A
- Prescott, Katrina
- Booth, Adam
- Raashid, Yasmin
- Jafri, Hussain
- Ruddle, Jonathan B
- Mackey, David A
- Jacobson, Samuel G
- Toomes, Carmel
- Lester, Douglas H
- Burt, David W
- Curry, William J
- Inglehearn, Chris F
Producer: 20111201
In:
Investigative ophthalmology & visual science vol. 52
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An SCN9A channelopathy causes congenital inability to experience pain. [electronic resource] by
- Cox, James J
- Reimann, Frank
- Nicholas, Adeline K
- Thornton, Gemma
- Roberts, Emma
- Springell, Kelly
- Karbani, Gulshan
- Jafri, Hussain
- Mannan, Jovaria
- Raashid, Yasmin
- Al-Gazali, Lihadh
- Hamamy, Henan
- Valente, Enza Maria
- Gorman, Shaun
- Williams, Richard
- McHale, Duncan P
- Wood, John N
- Gribble, Fiona M
- Woods, C Geoffrey
Producer: 20070111
In:
Nature vol. 444
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Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. [electronic resource] by
- Khan, Kamron
- Al-Maskari, Ahmed
- McKibbin, Martin
- Carr, Ian M
- Booth, Adam
- Mohamed, Moin
- Siddiqui, Salina
- Poulter, James A
- Parry, David A
- Logan, Clara V
- Hashmi, Anwar
- Sahi, Tehseen
- Jafri, Hussain
- Raashid, Yasmin
- Johnson, Colin A
- Markham, Alex F
- Toomes, Carmel
- Rice, Aine
- Sheridan, Eamonn
- Inglehearn, Chris F
- Ali, Manir
Producer: 20110901
In:
Investigative ophthalmology & visual science vol. 52
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Null mutations in LTBP2 cause primary congenital glaucoma. [electronic resource] by
- Ali, Manir
- McKibbin, Martin
- Booth, Adam
- Parry, David A
- Jain, Payal
- Riazuddin, S Amer
- Hejtmancik, J Fielding
- Khan, Shaheen N
- Firasat, Sabika
- Shires, Mike
- Gilmour, David F
- Towns, Katherine
- Murphy, Anna-Louise
- Azmanov, Dimitar
- Tournev, Ivailo
- Cherninkova, Sylvia
- Jafri, Hussain
- Raashid, Yasmin
- Toomes, Carmel
- Craig, Jamie
- Mackey, David A
- Kalaydjieva, Luba
- Riazuddin, Sheikh
- Inglehearn, Chris F
Producer: 20090609
In:
American journal of human genetics vol. 84
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Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. [electronic resource] by
- Khan, Kamron
- Logan, Clare V
- McKibbin, Martin
- Sheridan, Eamonn
- Elçioglu, Nursel H
- Yenice, Ozlem
- Parry, David A
- Fernandez-Fuentes, Narcis
- Abdelhamed, Zakia I A
- Al-Maskari, Ahmed
- Poulter, James A
- Mohamed, Moin D
- Carr, Ian M
- Morgan, Joanne E
- Jafri, Hussain
- Raashid, Yasmin
- Taylor, Graham R
- Johnson, Colin A
- Inglehearn, Chris F
- Toomes, Carmel
- Ali, Manir
Producer: 20120709
In:
Human molecular genetics vol. 21
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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. [electronic resource] by
- Khan, Kamron
- Rudkin, Adam
- Parry, David A
- Burdon, Kathryn P
- McKibbin, Martin
- Logan, Clare V
- Abdelhamed, Zakia I A
- Muecke, James S
- Fernandez-Fuentes, Narcis
- Laurie, Kate J
- Shires, Mike
- Fogarty, Rhys
- Carr, Ian M
- Poulter, James A
- Morgan, Joanne E
- Mohamed, Moin D
- Jafri, Hussain
- Raashid, Yasmin
- Meng, Ngy
- Piseth, Horm
- Toomes, Carmel
- Casson, Robert J
- Taylor, Graham R
- Hammerton, Michael
- Sheridan, Eamonn
- Johnson, Colin A
- Inglehearn, Chris F
- Craig, Jamie E
- Ali, Manir
Producer: 20111122
In:
American journal of human genetics vol. 89
Availability: No items available.
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