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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. [electronic resource] by
- Ali, Manir
- Ramprasad, Vedam Lakshmi
- Soumittra, Nagasamy
- Mohamed, Moin D
- Jafri, Hussain
- Rashid, Yasmin
- Danciger, Michael
- McKibbin, Martin
- Kumaramanickavel, Govindasamy
- Inglehearn, Chris F
Producer: 20090306
In:
Molecular vision vol. 14
Availability: No items available.
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10.
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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
Availability: No items available.
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11.
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Mutations in microcephalin cause aberrant regulation of chromosome condensation. [electronic resource] by
- Trimborn, Marc
- Bell, Sandra M
- Felix, Clive
- Rashid, Yasmin
- Jafri, Hussain
- Griffiths, Paul D
- Neumann, Luitgard M
- Krebs, Alice
- Reis, André
- Sperling, Karl
- Neitzel, Heidemarie
- Jackson, Andrew P
Producer: 20040920
In:
American journal of human genetics vol. 75
Availability: No items available.
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12.
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Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. [electronic resource] by
- El-Sayed, Walid
- Parry, David A
- Shore, Roger C
- Ahmed, Mushtaq
- Jafri, Hussain
- Rashid, Yasmin
- Al-Bahlani, Suhaila
- Al Harasi, Sharifa
- Kirkham, Jennifer
- Inglehearn, Chris F
- Mighell, Alan J
Producer: 20091222
In:
American journal of human genetics vol. 85
Availability: No items available.
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13.
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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
Availability: No items available.
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14.
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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
Availability: No items available.
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15.
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Partnerships for better mental health worldwide: WPA recommendations on best practices in working with service users and family carers. [electronic resource] by
- Wallcraft, Jan
- Amering, Michaela
- Freidin, Julian
- Davar, Bhargavi
- Froggatt, Diane
- Jafri, Hussain
- Javed, Afzal
- Katontoka, Sylvester
- Raja, Shoba
- Rataemane, Solomon
- Steffen, Sigrid
- Tyano, Sam
- Underhill, Christopher
- Wahlberg, Henrik
- Warner, Richard
- Herrman, Helen
Producer: 20111103
In:
World psychiatry : official journal of the World Psychiatric Association (WPA) vol. 10
Availability: No items available.
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16.
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Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. [electronic resource] by
- Parry, David A
- Poulter, James A
- Logan, Clare V
- Brookes, Steven J
- Jafri, Hussain
- Ferguson, Christopher H
- Anwari, Babra M
- Rashid, Yasmin
- Zhao, Haiqing
- Johnson, Colin A
- Inglehearn, Chris F
- Mighell, Alan J
Producer: 20130404
In:
American journal of human genetics vol. 92
Availability: No items available.
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17.
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Genetic and epigenetic analysis of recurrent hydatidiform mole. [electronic resource] by
- Hayward, Bruce E
- De Vos, Michel
- Talati, Nargese
- Abdollahi, M Reza
- Taylor, Graham R
- Meyer, Esther
- Williams, Denise
- Maher, Eamonn R
- Setna, Faridon
- Nazir, Kausar
- Hussaini, Shahnaz
- Jafri, Hussain
- Rashid, Yasmin
- Sheridan, Eamonn
- Bonthron, David T
Producer: 20090730
In:
Human mutation vol. 30
Availability: No items available.
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18.
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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
Availability: No items available.
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19.
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Identification of microcephalin, a protein implicated in determining the size of the human brain. [electronic resource] by
- Jackson, Andrew P
- Eastwood, Helen
- Bell, Sandra M
- Adu, Jimi
- Toomes, Carmel
- Carr, Ian M
- Roberts, Emma
- Hampshire, Daniel J
- Crow, Yanick J
- Mighell, Alan J
- Karbani, Gulshan
- Jafri, Hussain
- Rashid, Yasmin
- Mueller, Robert F
- Markham, Alexander F
- Woods, C Geoffrey
Producer: 20020726
In:
American journal of human genetics vol. 71
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Baseline Hemodynamic Impairment and Future Stroke Risk in Adult Idiopathic Moyamoya Phenomenon: Results of a Prospective Natural History Study. [electronic resource] by
- Derdeyn, Colin P
- Zipfel, Gregory J
- Zazulia, Allyson R
- Davis, Patricia H
- Prabhakaran, Shyam
- Ivan, Cristina S
- Aiyagari, Venkatesh
- Sagar, James R
- Hantler, Nancy
- Shinawi, Lina
- Lee, John J
- Jafri, Hussain
- Grubb, Robert L
- Miller, J Philip
- Dacey, Ralph G
Producer: 20170529
In:
Stroke vol. 48
Availability: No items available.
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