A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Gauhar, Zeeshan, Tejwani, Leon, Abdullah, Uzma, Saeed, Sadia, Shafique, Shagufta, Badshah, Mazhar, Choi, Jungmin, Dong, Weilai, Nelson-Williams, Carol, Lifton, Richard P, Lim, Janghoo, Raja, Ghazala K
Published in Cells (Basel, Switzerland) (30.09.2022)
Published in Cells (Basel, Switzerland) (30.09.2022)
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Journal Article
Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family
SHAIQ, Pakeeza A., KLAUSEGGER, Alfred, BAUER, Johann W., AZAM, Maleeha, RAJA, Ghazala K., QAMAR, Raheel
Published in Journal of dermatology (01.05.2012)
Published in Journal of dermatology (01.05.2012)
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Journal Article
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan
SHAIQ, Pakeeza A., KLAUSEGGER, Alfred, MUZAFFAR, Fawad, BAUER, Johann W., KHAN, Muhammad I., KHANUM, Azra, QAMAR, Raheel, RAJA, Ghazala K.
Published in Journal of dermatology (01.07.2012)
Published in Journal of dermatology (01.07.2012)
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An angiotensin I-converting enzyme insertion/deletion polymorphism is associated with Pakistani asthmatic cases and controls
Saba, Nusrat, Yusuf, Osman, Rehman, Sadia, Munir, Saeeda, Ahmad, Sheeraz, Mansoor, Atika, Raja, Ghazala K
Published in Journal of biosciences (01.09.2016)
Published in Journal of biosciences (01.09.2016)
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Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide
Stuart, Philip E., Tsoi, Lam C., Nair, Rajan P., Ghosh, Manju, Kabra, Madhulika, Shaiq, Pakeeza A., Raja, Ghazala K., Qamar, Raheel, Thelma, B.K., Patrick, Matthew T., Parihar, Anita, Singh, Sonam, Khandpur, Sujay, Kumar, Uma, Wittig, Michael, Degenhardt, Frauke, Tejasvi, Trilokraj, Voorhees, John J., Weidinger, Stephan, Franke, Andre, Abecasis, Goncalo R., Sharma, Vinod K., Elder, James T.
Published in HGG advances (13.01.2022)
Published in HGG advances (13.01.2022)
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A Single SNP Surrogate for Genotyping HLA-C06:02 in Diverse Populations
Stuart, Philip E., Tejasvi, Trilokraj, Shaiq, Pakeeza A., Kullavanijaya, Preya, Qamar, Raheel, Raja, Ghazala K., Li, Yanming, Voorhees, John J., Abecasis, Gonçalo R., Elder, James T., Nair, Rajan P.
Published in Journal of investigative dermatology (01.04.2015)
Published in Journal of investigative dermatology (01.04.2015)
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Journal Article
A Novel Missense Mutation in IERCC8/I Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Gauhar, Zeeshan, Tejwani, Leon, Abdullah, Uzma, Saeed, Sadia, Shafique, Shagufta, Badshah, Mazhar, Choi, Jungmin, Dong, Weilai, Nelson-Williams, Carol, Lifton, Richard P, Lim, Janghoo, Raja, Ghazala K
Published in Cells (Basel, Switzerland) (01.09.2022)
Published in Cells (Basel, Switzerland) (01.09.2022)
Get full text
Journal Article
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide
Stuart, Philip E, Tsoi, Lam C, Nair, Rajan P, Ghosh, Manju, Kabra, Madhulika, Shaiq, Pakeeza A, Raja, Ghazala K, Qamar, Raheel, Thelma, B K, Patrick, Matthew T, Parihar, Anita, Singh, Sonam, Khandpur, Sujay, Kumar, Uma, Wittig, Michael, Degenhardt, Frauke, Tejasvi, Trilokraj, Voorhees, John J, Weidinger, Stephan, Franke, Andre, Abecasis, Goncalo R, Sharma, Vinod K, Elder, James T
Published in HGG advances (13.01.2022)
Published in HGG advances (13.01.2022)
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Journal Article
Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family
Shaiq, Pakeeza A, Klausegger, Alfred, Bauer, Johann W, Azam, Maleeha, Raja, Ghazala K, Qamar, Raheel
Published in The Journal of dermatology (01.05.2012)
Published in The Journal of dermatology (01.05.2012)
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Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan
Shaiq, Pakeeza A, Klausegger, Alfred, Muzaffar, Fawad, Bauer, Johann W, Khan, Muhammad I, Khanum, Azra, Qamar, Raheel, Raja, Ghazala K
Published in The Journal of dermatology (01.07.2012)
Published in The Journal of dermatology (01.07.2012)
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