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Search Results - Kausar, Mehran
Search Results - Kausar, Mehran
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Biallelic variants in four genes underlying recessive osteogenesis imperfecta
by
Hayat, Amir
,
Hussain, Shabir
,
Bilal, Muhammad
,
Kausar, Mehran
,
Almuzzaini, Bader
,
Abbas, Safdar
,
Tanveer, Adeena
,
Khan, Amjad
,
Siddiqi, Saima
,
Foo, Jia Nee
,
Ahmad, Farooq
,
Khan, Feroz
,
Khan, Bushra
,
Anees, Mariam
,
Mäkitie, Outi
,
Alfadhel, Majid
,
Ahmad, Wasim
,
Umair, Muhammad
Published in
European journal of medical genetics
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
by
Kausar, Mehran
,
Ain, Noor Ul
,
Hayat, Farzana
,
Fatima, Hunain
,
Azim, Saad
,
Ullah, Hazrat
,
Mushtaq, Murva
,
Khalid, Sumbal
,
Hussain, Shahid
,
Naz, Sadaf
,
Janjua, Jamal
,
Amjad, Saad Bin
,
Baig, Ruqia Mehmood
,
Makitie, Outi
,
Qamar, Raheel
,
Ikegawa, Shiro
,
Gen, Nishimura
,
Khor, Chiea Chuen
,
Foo, Jia Nee
,
Siddiqi, Saima
Published in
BMC musculoskeletal disorders
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Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
by
Kausar, Mehran
,
Siddiqi, Saima
,
Yaqoob, Muhammad
,
Mansoor, Sajid
,
Makitie, Outi
,
Mir, Asif
,
Khor, Chiea Chuen
,
Foo, Jia Nee
,
Anees, Mariam
Published in
Journal of biomedical science
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SGCD Homozygous Nonsense Mutation (p.Arg97 ∗ ) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report
by
Younus, Muhammad
,
Ahmad, Farooq
,
Malik, Erum
,
Bilal, Muhammad
,
Kausar, Mehran
,
Abbas, Safdar
,
Shaheen, Shabnam
,
Kakar, Mohib Ullah
,
Alfadhel, Majid
,
Umair, Muhammad
Published in
Frontiers in genetics
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A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
by
Kausar, Mehran
,
Chew, Elaine Guo Yan
,
Ullah, Hazrat
,
Anees, Mariam
,
Khor, Chiea Chuen
,
Foo, Jia Nee
,
Makitie, Outi
,
Siddiqi, Saima
Published in
Frontiers in genetics
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Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
by
Kausar, Mehran
,
Siddiqi, Saima
,
Yaqoob, Muhammad
,
Mansoor, Sajid
,
Makitie, Outi
,
Mir, Asif
,
Khor, Chiea Chuen
,
Foo, Jia Nee
,
Anees, Mariam
Published in
Journal of biomedical science
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
by
Pekkinen, Minna
,
Terhal, Paulien A.
,
Botto, Lorenzo D.
,
Henning, Petra
,
Mäkitie, Riikka E.
,
Roschger, Paul
,
Jain, Amrita
,
Kol, Matthijs
,
Kjellberg, Matti A.
,
Paschalis, Eleftherios P.
,
van Gassen, Koen
,
Murray, Mary
,
Bayrak-Toydemir, Pinar
,
Magnusson, Maria K.
,
Jans, Judith
,
Kausar, Mehran
,
Carey, John C.
,
Somerharju, Pentti
,
Lerner, Ulf H.
,
Olkkonen, Vesa M.
,
Klaushofer, Klaus
,
Holthuis, Joost C.M.
,
Mäkitie, Outi
Published in
JCI insight
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Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
by
Kausar, Mehran
,
Mäkitie, Riikka E.
,
Toiviainen-Salo, Sanna
,
Ignatius, Jaakko
,
Anees, Mariam
,
Mäkitie, Outi
Published in
European journal of medical genetics
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
by
Pekkinen, Minna
,
Terhal, Paulien A
,
Botto, Lorenzo D
,
Henning, Petra
,
Mäkitie, Riikka E
,
Roschger, Paul
,
Jain, Amrita
,
Kol, Matthijs
,
Kjellberg, Matti A
,
Paschalis, Eleftherios P
,
van Gassen, Koen
,
Murray, Mary
,
Bayrak-Toydemir, Pinar
,
Magnusson, Maria K
,
Jans, Judith
,
Kausar, Mehran
,
Carey, John C
,
Somerharju, Pentti
,
Lerner, Ulf H
,
Olkkonen, Vesa M
,
Klaushofer, Klaus
,
Holthuis, Joost Cm
,
Mäkitie, Outi
Published in
JCI insight
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A Recurrent Mutation in CTSK Gene is Responsible for Autosomal Recessive Pycnodysostosis in Consanguineous Pakistani Families
by
Kausar, Mehran
,
Ashraf, Naveed
,
Hayat, Farzana
,
Hashmi, Asraf Hussain
,
Siddiqi, Saima
,
Anees, Mariam
Published in
Pakistan journal of zoology
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Effects of plastic sheet on water saving and yield under furrow irrigation method in semi-arid region
by
Sohail Memon, Muhammad
,
Ali, Kausar
,
Ali Siyal, Altaf
,
Guo, Jun
,
Ara Memon, Shamim
,
Ahmed Soomro, Shakeel
,
Memon, Noreena
,
Ji, Changying
Published in
International journal of agricultural and biological engineering
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European Journal Of Medical Genetics
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