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1دورية أكاديمية
المؤلفون: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed
المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688Test
مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3
الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Parveen, Asia, Khan, Sher Alam, Mirza, Muhammad Usman, Bashir, Hina, Arshad, Fatima, Iqbal, Maria, Ahmad, Waseem, Wahab, Ahsan, Fiaz, Amal, Naz, Sidra, Ashraf, Fareeha, Mobeen, Tayyaba, Aziz, Salman, Ahmed, Syed Shoaib, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Gaboon, Nagwa E., Gul, Roquyya, Khan, Saadullah, Froeyen, Matheus, Shoaib, Muhammad, Wasif, Naveed
مصطلحات موضوعية: Hypodontia/oligodontia, Hypohidrotic ectodermal dysplasia, WNT10A, EDAR, EDA, Exome sequencing, MD simulations, DDC 610 / Medicine & health, Ectodermal dysplasia, Genetics, Tooth abnormalities, Odontodysplasia, Ektodermaldysplasie, Oligodontie
وصف الملف: application/pdf
العلاقة: https://www.mdpi.com/1422-0067/20/21/5282/s1Test; http://dx.doi.org/10.18725/OPARU-47807Test; https://oparu.uni-ulm.de/xmlui/123456789/47883Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-47883-7Test
الإتاحة: https://doi.org/10.18725/OPARU-47807Test
https://oparu.uni-ulm.de/xmlui/123456789/47883Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-47883-7Test -
3دورية أكاديمية
المؤلفون: Hussain, Syeda Iqra, Muhammad, Nazif, Khan, Niamatullah, Khan, Mobeen, Fardous, Fardous, Tahir, Raheel, Yasin, Muhammad, Khan, Sher Alam, Saleha, Shamim, Muhammad, Noor, Wasif, Naveed, Khan, Saadullah
المساهمون: Higher Education Commission, Pakistan
المصدر: The Journal of Gene Medicine ; volume 26, issue 1 ; ISSN 1099-498X 1521-2254
الإتاحة: https://doi.org/10.1002/jgm.3591Test
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4دورية أكاديمية
المؤلفون: Parveen, Asia, Tariq, Muhammad, Khan, Sher Alam, Kakar, Naseebullah, Arif, Amina, Wasif, Naveed
المصدر: Human Genome Variation ; volume 10, issue 1 ; ISSN 2054-345X
مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1038/s41439-023-00242-zTest
https://www.nature.com/articles/s41439-023-00242-z.pdfTest
https://www.nature.com/articles/s41439-023-00242-zTest -
5دورية أكاديمية
المؤلفون: Hussain, Syeda Iqra, Muhammad, Nazif, Shah, Salah Ud Din, Fardous, Fardous, Khan, Sher Alam, Khan, Niamatullah, Rehman, Adil U, Siddique, Mehwish, Wasan, Shoukat Ali, Niaz, Rooh, Ullah, Hafiz, Khan, Niamat, Muhammad, Noor, Mirza, Muhammad Usman, Wasif, Naveed, Khan, Saadullah
المساهمون: Universitätsklinikum Schleswig-Holstein - Campus Kiel
المصدر: BMC Neurology ; volume 23, issue 1 ; ISSN 1471-2377
مصطلحات موضوعية: Neurology (clinical), General Medicine
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6دورية أكاديمية
المؤلفون: Hussain, Syeda Iqra, Muhammad, Nazif, Shah, Shahbaz Ali, Rehman, Adil u, Khan, Sher Alam, Saleha, Shamim, Khan, Yar Muhammad, Muhammad, Noor, Khan, Saadullah, Wasif, Naveed
المصدر: BMC Medical Genomics; 7/2/2024, Vol. 17 Issue 1, p1-9, 9p
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7دورية أكاديمية
المؤلفون: Khan, Sher Alam, Khan, Saadullah, Muhammad, Noor, Rehman, Zia Ur, Khan, Muhammad Adnan, Nasir, Abdul, Kalsoom, Umm-e-, Khan, Anwar Kamal, Khan, Hassan, Wasif, Naveed
مصطلحات موضوعية: tooth agenesis, non-syndromic, RFX2, missense variant, hedgehog and fibroblast growth factor signaling pathways, DDC 610 / Medicine & health, Anodontia, Genetics, Zahnloser Kiefer, Angeborene Krankheit, Genetik
وصف الملف: application/pdf; image/tiff
العلاقة: http://dx.doi.org/10.18725/OPARU-45946Test; https://oparu.uni-ulm.de/xmlui/123456789/46022Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-46022-5Test
الإتاحة: https://doi.org/10.18725/OPARU-45946Test
https://oparu.uni-ulm.de/xmlui/123456789/46022Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-46022-5Test -
8دورية أكاديمية
المؤلفون: Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
مصطلحات موضوعية: Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia, consanguineous, Sanger sequencing, DYM, DDC 610 / Medicine & health, Musculoskeletal abnormalities, Brain, Abnormalities, Sequence analysis, DNA, Erbkrankheit, Genanalyse
وصف الملف: application/pdf; image/tiff
العلاقة: http://dx.doi.org/10.18725/OPARU-43346Test; https://oparu.uni-ulm.de/xmlui/123456789/43422Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43422-1Test
الإتاحة: https://doi.org/10.18725/OPARU-43346Test
https://oparu.uni-ulm.de/xmlui/123456789/43422Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-43422-1Test -
9دورية أكاديمية
المؤلفون: Fozia, Fozia, Nazli, Rubina, Bibi, Nousheen, Khan, Sardar Sher Alam, Muhammad, Noor, Shakeeb, Nafila, Khan, M. Zakir Saadullah, Jelani, Musharraf, Wasif, Naveed
مصطلحات موضوعية: Exome sequence, COL17A1 gene, PLEC gene, Autosomal recessive, DDC 610 / Medicine & health, Epidermolysis bullosa, Genetics, Exome
وصف الملف: application/pdf
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.727288/full#supplementary-materialTest; http://dx.doi.org/10.18725/OPARU-41201Test; https://oparu.uni-ulm.de/xmlui/123456789/41277Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-41277-7Test
الإتاحة: https://doi.org/10.18725/OPARU-41201Test
https://oparu.uni-ulm.de/xmlui/123456789/41277Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-41277-7Test -
10تقرير
المؤلفون: Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Klinkhammer, Hannah, Marchi, Elaine, Caro, Pilar, Abdelrazek, Ibrahim M, Pantel, Jean Tori, Hagen, Merle Ten, Thong, Meow-Keong, Binti Mazlan, Rifhan Azwani, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz Carvalho, Vilella, Thainá, Pinheiro, Isabel Furquim, Kim, Chong Ae, Melaragno, Maria Isabel, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro Mauro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias B, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina Noemi, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Oegema, Renske, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio F, Höller, Matthias, Toutouna, Louiza, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John A, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adam, Ronja, Einicke, Lara, Horn, Denise, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri A, Conti, Marcelo Martinez, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Bouman, Arjan, Lumaka, Aime, Wasif, Naveed, Shinawi, Marwan, Blackburn, Patrick R, Wang, Tianyun, Niehues, Tim, Schmidt, Axel, Roth, Regina Rita, Wieczorek, Dagmar, Hu, Ping, Waikel, Rebekah L, Ledgister Hanchard, Suzanna E, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Arlt, Annabelle, Olinger, Eric, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Chung, Brian Hon-Yin, Mak, Christopher C Y, Kayserili, Hülya, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli Özlem, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen W, Mücke, Martin, Verloes, Alain, Schaaf, Christian P, Nellåker, Christoffer, Solomon, Benjamin D, Nöthen, Markus M, Abdalla, Ebtesam, Lyon, Gholson J, Krawitz, Peter M, Hsieh, Tzung-Chien
المصدر: Res Sq
العلاقة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test; https://pubmed.ncbi.nlm.nih.gov/38903062Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/
الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pubmed.ncbi.nlm.nih.gov/38903062Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/
النص الكامل