Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic... von Mir, Yaser Rafiq, Agrahari, Ashish Kumar, Hassan, Asima, Choudhary, Abhishek, Asthana, Shailendra, Taneja, Atul Kumar, Nawaz, Shah, Ilyas, Mohd, Scotti, Claudia, Kuchay, Raja A. H.

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Ocular findings and genomics of X-linked recessive disorders: A review von Hassan, Asima, Mir, Yaser, Kuchay, Raja

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Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss von Ramzan, Memoona, Duman, Duygu, Hendricks, LeShon Chere Peart, Guo, Shengru, Mutlu, Ahmet, Kalcioglu, Mahmut Tayyar, Seyhan, Serhat, Carranza, Claudia, Bonyadi, Murtaza, Mahdieh, Nejat, Yildirim-Baylan, Muzeyyen, Figueroa-Ildefonso, Erick, Alper, Ozgul, Atik, Tahir, Ayral, Abdurrahman, Bozan, Nazim, Balta, Burhan, Rivas, Christian, Manzoli, Gabrielle N, Huesca-Hernandez, Fabiola, Kuchay, Raja A H, Durgut, Merve, Bademci, Guney, Tekin, Mustafa

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Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India von Mir, Yaser Rafiq, Zeng, Xue, Taneja, Atul K., Hassan, Asima, Sheth, Jayesh, Kuchay, Raja A. H.

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Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children von Kuchay, Raja A. H, Anwar, Mumtaz, Thapa, Babu R, Mahmood, Akhtar, Mahmood, Safrun

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Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir von Kuchay, Raja A.H., Mir, Yaser Rafiq, Zeng, Xue, Hassan, Asima, Namba, Kazunori, Tekin, Mustafa

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ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India von Kuchay, Raja A. H., Mir, Yaser Rafiq, Zeng, Xue, Hassan, Asima, Musarrat, Javed, Parwez, Iqbal, Kernstock, Christoph, Traschütz, Andreas, Synofzik, Matthis

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A review of complementary therapies for chemotherapy induced gastrointestinal mucositis von Kuchay, Raja A.H

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Effect of C/T −13910 cis-acting regulatory variant on expression and activity of lactase in Indian children and its implication for early genetic screening of adult-type hypolactas... von Kuchay, Raja A.H., Thapa, Babu R., Mahmood, Akhtar, Mahmood, Safrun

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Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jamm... von Mir, Yaser Rafiq, Agrahari, Ashish Kumar, Choudhary, Abhishek, Hassan, Asima, Taneja, Atul Kumar, Zenteno, Juan C., Montes-Almanza, Luis, Rusmini, Marta, Namba, Kazunori, Banday, Aaqib Zaffar, Kuchay, Raja A.H.

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