المؤلفون: Daga, Ankana, Morales, Ana Luz, Shril, Shirlee, Benoit, Elizabeth, Pantel, Dalia, Aguilar-González, Angie, García, Mario, Onuchic-Whitford, Ana C., Lou-Meda, Randall, Hildebrandt, Friedhelm

المساهمون: National Institutes of Health, Thrasher Research Fund, Nephrotic Syndrome Study Network, Nephcure, American Society of Nephrology

المصدر: Kidney Medicine ; volume 6, issue 12, page 100910 ; ISSN 2590-0595

الاتاحة: https://doi.org/10.1016/j.xkme.2024.100910
https://api.elsevier.com/content/article/PII:S2590059524001213?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2590059524001213?httpAccept=text/plain

المؤلفون: Schneider, Ronen, Shril, Shirlee, Buerger, Florian, Deutsch, Konstantin, Yousef, Kirollos, Frank, Camille N., Onuchic-Whitford, Ana C., Kitzler, Thomas M., Mao, Youying, Klämbt, Verena, Zahoor, Muhammad Y., Lemberg, Katharina, Majmundar, Amar J., Mansour, Bshara, Saida, Ken, Seltzsam, Steve, Kolvenbach, Caroline M., Merz, Lea Maria, Mertens, Nils D., Hermle, Tobias, Mann, Nina, Pantel, Dalia, Halawi, Abdul A., Bao, Aaron, Schierbaum, Luca, Schneider, Sophia, Salmanullah, Daanya, Ben-Dov, Iddo Z., Sagiv, Itamar, Eid, Loai A., Awad, Hazem Subhi H., Al Saffar, Muna, Soliman, Neveen A., Nabhan, Marwa M., Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohamed A., Ooda, Said, Fathy, Hanan M., Mane, Shrikant, Lifton, Richard P., Somers, Michael J.G., Hildebrandt, Friedhelm

المساهمون: NIH

المصدر: Genes & Diseases ; page 101280 ; ISSN 2352-3042

الاتاحة: http://dx.doi.org/10.1016/j.gendis.2024.101280
https://api.elsevier.com/content/article/PII:S2352304224000771?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352304224000771?httpAccept=text/plain

المؤلفون: Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm

المصدر: Genetics in Medicine ; volume 24, issue 2, page 307-318 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.09.010
https://api.elsevier.com/content/article/PII:S109836002104137X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002104137X?httpAccept=text/plain

المؤلفون: Pantel, Dalia^1,2, Mertens, Nils D.¹, Schneider, Ronen¹, Hölzel, Selina¹, Kari, Jameela A.^3,4, Desoky, Sherif El^3,4, Shalaby, Mohamed A.^3,4, Lim, Tze Y.⁵, Sanna-Cherchi, Simone⁵, Shril, Shirlee¹, Hildebrandt, Friedhelm¹ friedhelm.hildebrandt@childrens.harvard.edu

المصدر: Pediatric Nephrology. Feb2024, Vol. 39 Issue 2, p455-461. 7p.

مصطلحات موضوعية: *SEQUENCE analysis, *NEPHROTIC syndrome, *SINGLE nucleotide polymorphisms, *GENETIC variation, *DESCRIPTIVE statistics, *GENOTYPES, *RESEARCH funding

المؤلفون: Kolvenbach, Caroline M., Zheng, Bixia, Merz, Lea M., Mertens, Nils D., Mansour, Bshara, Wang, Chunyan, Seltzsam, Steve, Schneider, Sophia, Schierbaum, Luca, Pantel, Dalia, Chen, Jing, van der Ven, Amelie T., Bello, Jibril O., Shril, Shirlee, Hildebrandt, Friedhelm

المساهمون: Deutsche Forschungsgemeinschaft, National Institutes of Health

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 5, page 1355-1359 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63127
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63127
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63127

المؤلفون: Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen-Han Wilfred, Nicolas-Frank, Camille, Yousef, Kirollos, Au, Kit Sing, Mann, Nina, Pantel, Dalia, Schneider, Sophia, Schierbaum, Luca, Kitzler, Thomas M, Connaughton, Dervla M, Mao, Youying, Dai, Rufeng, Nakayama, Makiko, Kari, Jameela A, El Desoky, Sherif, Shalaby, Mohammed, Eid, Loai A, Awad, Hazem S, Tasic, Velibor, Mane, Shrikant M, Lifton, Richard P, Baum, Michelle A, Shril, Shirlee, Estrada, Carlos R, Hildebrandt, Friedhelm

المصدر: Journal Articles

مصطلحات موضوعية: Animals, Disease Models, Animal, Exome, Humans, Mice, Spinal Dysraphism, Exome Sequencing, Medical Genetics, Medical Sciences, Medical Specialties, Medicine and Health Sciences, Pediatrics

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/2106; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/3066/viewcontent/nihms_1768066.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/2106
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/3066/viewcontent/nihms_1768066.pdf

المؤلفون: Pantel, Dalia, Mertens, Nils D., Schneider, Ronen, Kari, Jameela A., El desoky, Sherif M., Bagga, Arvind, Lim, Tze Yin, Shril, Shirlee, Hildebrandt, Friedhelm

المصدر: Journal of the American Society of Nephrology ; volume 33, issue 11S, page 753-753 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20223311s1753b
https://journals.lww.com/10.1681/ASN.20223311S1753b

المؤلفون: Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen-Han W., Nicolas Frank, Camille H., Yousef, Kirollos, Mann, Nina, Schneider, Sophia, Schierbaum, Luca M., Pantel, Dalia, Kari, Jameela A., El desoky, Sherif M., Eid, Loai A., Tasic, Velibor, Shril, Shirlee, Baum, Michelle A., Estrada, Carlos R., Hildebrandt, Friedhelm

المصدر: Journal of the American Society of Nephrology ; volume 32, issue 10S, page 429-429 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20213210s1429c
https://journals.lww.com/10.1681/ASN.20213210S1429c