Sortiert nach
Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?
2020
Volltextzugriff (PDF)
Kidney international, 2022-03, Vol.101 (3), p.473-484
2022
Volltextzugriff (PDF)
American journal of human genetics, 2020-10, Vol.107 (4), p.727-742
- Connaughton, Dervla M.
- Dai, Rufeng
- Owen, Danielle J.
- Marquez, Jonathan
- Mann, Nina
- Graham-Paquin, Adda L.
- Nakayama, Makiko
- Coyaud, Etienne
- Laurent, Estelle M.N.
- St-Germain, Jonathan R.
- Blok, Lot Snijders
- Vino, Arianna
- Klämbt, Verena
- Deutsch, Konstantin
- Wu, Chen-Han Wilfred
- Kolvenbach, Caroline M.
- Kause, Franziska
- Ottlewski, Isabel
- Schneider, Ronen
- Kitzler, Thomas M.
- Majmundar, Amar J.
- Buerger, Florian
- Onuchic-Whitford, Ana C.
- Youying, Mao
- Kolb, Amy
- Salmanullah, Daanya
- Chen, Evan
- van der Ven, Amelie T.
- Rao, Jia
- Ityel, Hadas
- Seltzsam, Steve
- Rieke, Johanna M.
- Chen, Jing
- Vivante, Asaf
- Hwang, Daw-Yang
- Kohl, Stefan
- Dworschak, Gabriel C.
- Hermle, Tobias
- Alders, Mariëlle
- Bartolomaeus, Tobias
- Bauer, Stuart B.
- Baum, Michelle A.
- Brilstra, Eva H.
- Challman, Thomas D.
- Zyskind, Jacob
- Costin, Carrie E.
- Dipple, Katrina M.
- Duijkers, Floor A.
- Ferguson, Marcia
- Fitzpatrick, David R.
- Fick, Roger
- Glass, Ian A.
- Hulick, Peter J.
- Kline, Antonie D.
- Krey, Ilona
- Kumar, Selvin
- Lu, Weining
- Marco, Elysa J.
- Wentzensen, Ingrid M.
- Mefford, Heather C.
- Platzer, Konrad
- Povolotskaya, Inna S.
- Savatt, Juliann M.
- Shcherbakova, Natalia V.
- Senguttuvan, Prabha
- Squire, Audrey E.
- Stein, Deborah R.
- Thiffault, Isabelle
- Voinova, Victoria Y.
- Somers, Michael J.G.
- Ferguson, Michael A.
- Traum, Avram Z.
- Daouk, Ghaleb H.
- Daga, Ankana
- Rodig, Nancy M.
- Terhal, Paulien A.
- van Binsbergen, Ellen
- Eid, Loai A.
- Tasic, Velibor
- Rasouly, Hila Milo
- Lim, Tze Y.
- Ahram, Dina F.
- Gharavi, Ali G.
- Reutter, Heiko M.
- Rehm, Heidi L.
- MacArthur, Daniel G.
- Lek, Monkol
- Laricchia, Kristen M.
- Lifton, Richard P.
- Xu, Hong
- Mane, Shrikant M.
- Sanna-Cherchi, Simone
- Sharrocks, Andrew D.
- Raught, Brian
- Fisher, Simon E.
- Bouchard, Maxime
- Khokha, Mustafa K.
- Shril, Shirlee
- Hildebrandt, Friedhelm
2020
Volltextzugriff (PDF)
PloS one, 2015-05, Vol.10 (5), p.e0126660-e0126660
2015
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2022-01, Vol.33 (1), p.108-120
2022
Volltextzugriff (PDF)
Clinical journal of the American Society of Nephrology, 2020-05, Vol.15 (5), p.651-664
- Nestor, Jordan G
- Marasa, Maddalena
- Milo-Rasouly, Hila
- Groopman, Emily E
- Husain, S Ali
- Mohan, Sumit
- Fernandez, Hilda
- Aggarwal, Vimla S
- Ahram, Dina F
- Vena, Natalie
- Bogyo, Kelsie
- Bomback, Andrew S
- Radhakrishnan, Jai
- Appel, Gerald B
- Ahn, Wooin
- Cohen, David J
- Canetta, Pietro A
- Dube, Geoffrey K
- Rao, Maya K
- Morris, Heather K
- Crew, Russell J
- Sanna-Cherchi, Simone
- Kiryluk, Krzysztof
- Gharavi, Ali G
2020
Volltextzugriff (PDF)
American journal of human genetics, 2009-02, Vol.84 (2), p.274-278
2009
Volltextzugriff (PDF)
Frontiers in genetics, 2024-03, Vol.15, p.1363849-1363849
- Al-Sarraj, Yasser
- Taha, Rowaida Z
- Al-Dous, Eman
- Ahram, Dina
- Abbasi, Somayyeh
- Abuazab, Eman
- Shaath, Hibah
- Habbab, Wesal
- Errafii, Khaoula
- Bejaoui, Yosra
- AlMotawa, Maryam
- Khattab, Namat
- Aqel, Yasmin Abu
- Shalaby, Karim E
- Al-Ansari, Amina
- Kambouris, Marios
- Abouzohri, Adel
- Ghazal, Iman
- Tolfat, Mohammed
- Alshaban, Fouad
- El-Shanti, Hatem
- Albagha, Omar M E
2024
Volltextzugriff (PDF)
Molecular vision, 2014-04, Vol.20, p.497-510
2014
Volltextzugriff (PDF)
Genes, 2021-05, Vol.12 (5), p.761
2021
Volltextzugriff (PDF)
Kidney international reports, 2023-08, Vol.8 (8), p.1638-1647
- Marasa, Maddalena
- Ahram, Dina F.
- Rehman, Atteeq U.
- Mitrotti, Adele
- Abhyankar, Avinash
- Jain, Namrata G.
- Weng, Patricia L.
- Piva, Stacy E.
- Fernandez, Hilda E.
- Uy, Natalie S.
- Chatterjee, Debanjana
- Kil, Byum H.
- Nestor, Jordan G.
- Felice, Vanessa
- Robinson, Dino
- Whyte, Dilys
- Gharavi, Ali G.
- Appel, Gerald B.
- Radhakrishnan, Jai
- Santoriello, Dominick
- Bomback, Andrew
- Lin, Fangming
- D’Agati, Vivette D.
- Jobanputra, Vaidehi
- Sanna-Cherchi, Simone
2023
Volltextzugriff (PDF)
Clinical case reports, 2017-06, Vol.5 (6), p.1013-1017
2017
Volltextzugriff (PDF)
Clinical case reports, 2016-12, Vol.4 (12), p.1125-1131
2016
Volltextzugriff (PDF)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S140-S140
2021
Volltextzugriff (PDF)
Molecular genetics and metabolism, 2021-04, Vol.132, p.S140
2021
Volltextzugriff (PDF)
Nature genetics, 2019-01, Vol.51 (1), p.117-127
- Verbitsky, Miguel
- Westland, Rik
- Perez, Alejandra
- Kiryluk, Krzysztof
- Liu, Qingxue
- Krithivasan, Priya
- Mitrotti, Adele
- Fasel, David A
- Batourina, Ekaterina
- Sampson, Matthew G
- Bodria, Monica
- Werth, Max
- Kao, Charlly
- Martino, Jeremiah
- Capone, Valentina P
- Vivante, Asaf
- Shril, Shirlee
- Kil, Byum Hee
- Marasà, Maddalena
- Zhang, Jun Y
- Na, Young-Ji
- Lim, Tze Y
- Ahram, Dina
- Weng, Patricia L
- Heinzen, Erin L
- Carrea, Alba
- Piaggio, Giorgio
- Gesualdo, Loreto
- Manca, Valeria
- Masnata, Giuseppe
- Gigante, Maddalena
- Cusi, Daniele
- Izzi, Claudia
- Scolari, Francesco
- van Wijk, Joanna A E
- Saraga, Marijan
- Santoro, Domenico
- Conti, Giovanni
- Zamboli, Pasquale
- White, Hope
- Drozdz, Dorota
- Zachwieja, Katarzyna
- Miklaszewska, Monika
- Tkaczyk, Marcin
- Tomczyk, Daria
- Krakowska, Anna
- Sikora, Przemyslaw
- Jarmoliński, Tomasz
- Borszewska-Kornacka, Maria K
- Pawluch, Robert
- Szczepanska, Maria
- Adamczyk, Piotr
- Mizerska-Wasiak, Malgorzata
- Krzemien, Grazyna
- Szmigielska, Agnieszka
- Zaniew, Marcin
- Dobson, Mark G
- Darlow, John M
- Puri, Prem
- Barton, David E
- Furth, Susan L
- Warady, Bradley A
- Gucev, Zoran
- Lozanovski, Vladimir J
- Tasic, Velibor
- Pisani, Isabella
- Allegri, Landino
- Rodas, Lida M
- Campistol, Josep M
- Jeanpierre, Cécile
- Alam, Shumyle
- Casale, Pasquale
- Wong, Craig S
- Lin, Fangming
- Miranda, Débora M
- Oliveira, Eduardo A
- Simões-E-Silva, Ana Cristina
- Barasch, Jonathan M
- Levy, Brynn
- Wu, Nan
- Hildebrandt, Friedhelm
- Ghiggeri, Gian Marco
- Latos-Bielenska, Anna
- Materna-Kiryluk, Anna
- Zhang, Feng
- Hakonarson, Hakon
- Papaioannou, Virginia E
- Mendelsohn, Cathy L
- Gharavi, Ali G
- Sanna-Cherchi, Simone
2019
Volltextzugriff (PDF)
Human mutation, 2018-03, Vol.39 (3), p.378-382
2018
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.30-30
2020
Volltextzugriff (PDF)
Human mutation, 2018-01, Vol.39 (3), p.378-382
2018
Volltextzugriff (PDF)
Nature communications, 2023-04, Vol.14 (1), p.2481-2481, Article 2481
- Barry, Alexandra
- McNulty, Michelle T
- Jia, Xiaoyuan
- Gupta, Yask
- Debiec, Hanna
- Luo, Yang
- Nagano, China
- Horinouchi, Tomoko
- Jung, Seulgi
- Colucci, Manuela
- Ahram, Dina F
- Mitrotti, Adele
- Sinha, Aditi
- Teeninga, Nynke
- Jin, Gina
- Shril, Shirlee
- Caridi, Gianluca
- Bodria, Monica
- Lim, Tze Y
- Westland, Rik
- Zanoni, Francesca
- Marasa, Maddalena
- Turudic, Daniel
- Giordano, Mario
- Gesualdo, Loreto
- Magistroni, Riccardo
- Pisani, Isabella
- Fiaccadori, Enrico
- Reiterova, Jana
- Maringhini, Silvio
- Morello, William
- Montini, Giovanni
- Weng, Patricia L
- Scolari, Francesco
- Saraga, Marijan
- Tasic, Velibor
- Santoro, Domenica
- van Wijk, Joanna A E
- Milošević, Danko
- Kawai, Yosuke
- Kiryluk, Krzysztof
- Pollak, Martin R
- Gharavi, Ali
- Lin, Fangmin
- Simœs E Silva, Ana Cristina
- Loos, Ruth J F
- Kenny, Eimear E
- Schreuder, Michiel F
- Zurowska, Aleksandra
- Dossier, Claire
- Ariceta, Gema
- Drozynska-Duklas, Magdalena
- Hogan, Julien
- Jankauskiene, Augustina
- Hildebrandt, Friedhelm
- Prikhodina, Larisa
- Song, Kyuyoung
- Bagga, Arvind
- Cheong, 2nd, Hae
- Ghiggeri, Gian Marco
- Vachvanichsanong, Prayong
- Nozu, Kandai
- Lee, Dongwon
- Vivarelli, Marina
- Raychaudhuri, Soumya
- Tokunaga, Katsushi
- Sanna-Cherchi, Simone
- Ronco, Pierre
- Iijima, Kazumoto
- Sampson, Matthew G
2023
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2023-06, Vol.34 (6), p.1105-1119
- Ahram, Dina F
- Lim, Tze Y
- Ke, Juntao
- Jin, Gina
- Verbitsky, Miguel
- Bodria, Monica
- Kil, Byum Hee
- Chatterjee, Debanjana
- Piva, Stacy E
- Marasa, Maddalena
- Zhang, Jun Y
- Cocchi, Enrico
- Caridi, Gianluca
- Gucev, Zoran
- Lozanovski, Vladimir J
- Pisani, Isabella
- Izzi, Claudia
- Savoldi, Gianfranco
- Gnutti, Barbara
- Capone, Valentina P
- Morello, William
- Guarino, Stefano
- Esposito, Pasquale
- Lambert, Sarah
- Radhakrishnan, Jai
- Appel, Gerald B
- Uy, Natalie S
- Rao, Maya K
- Canetta, Pietro A
- Bomback, Andrew S
- Nestor, Jordan G
- Hays, Thomas
- Cohen, David J
- Finale, Carolina
- Wijk, Joanna A E van
- La Scola, Claudio
- Baraldi, Olga
- Tondolo, Francesco
- Di Renzo, Dacia
- Jamry-Dziurla, Anna
- Pezzutto, Alessandro
- Manca, Valeria
- Mitrotti, Adele
- Santoro, Domenico
- Conti, Giovanni
- Martino, Marida
- Giordano, Mario
- Gesualdo, Loreto
- Zibar, Lada
- Masnata, Giuseppe
- Bonomini, Mario
- Alberti, Daniele
- La Manna, Gaetano
- Caliskan, Yasar
- Ranghino, Andrea
- Marzuillo, Pierluigi
- Kiryluk, Krzysztof
- Krzemień, Grażyna
- Miklaszewska, Monika
- Lin, Fangming
- Montini, Giovanni
- Scolari, Francesco
- Fiaccadori, Enrico
- Arapović, Adela
- Saraga, Marijan
- McKiernan, James
- Alam, Shumyle
- Zaniew, Marcin
- Szczepańska, Maria
- Szmigielska, Agnieszka
- Sikora, Przemysław
- Drożdż, Dorota
- Mizerska-Wasiak, Malgorzata
- Mane, Shrikant
- Lifton, Richard P
- Tasic, Velibor
- Latos-Bielenska, Anna
- Gharavi, Ali G
- Ghiggeri, Gian Marco
- Materna-Kiryluk, Anna
- Westland, Rik
- Sanna-Cherchi, Simone
2023
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2021-04, Vol.32 (4), p.805-820
- Verbitsky, Miguel
- Krithivasan, Priya
- Batourina, Ekaterina
- Khan, Atlas
- Graham, Sarah E
- Marasà, Maddalena
- Kim, Hyunwoo
- Lim, Tze Y
- Weng, Patricia L
- Sánchez-Rodríguez, Elena
- Mitrotti, Adele
- Ahram, Dina F
- Zanoni, Francesca
- Fasel, David A
- Westland, Rik
- Sampson, Matthew G
- Zhang, Jun Y
- Bodria, Monica
- Kil, Byum Hee
- Shril, Shirlee
- Gesualdo, Loreto
- Torri, Fabio
- Scolari, Francesco
- Izzi, Claudia
- van Wijk, Joanna A E
- Saraga, Marijan
- Santoro, Domenico
- Conti, Giovanni
- Barton, David E
- Dobson, Mark G
- Puri, Prem
- Furth, Susan L
- Warady, Bradley A
- Pisani, Isabella
- Fiaccadori, Enrico
- Allegri, Landino
- Degl'Innocenti, Maria Ludovica
- Piaggio, Giorgio
- Alam, Shumyle
- Gigante, Maddalena
- Zaza, Gianluigi
- Esposito, Pasquale
- Lin, Fangming
- Simões-E-Silva, Ana Cristina
- Brodkiewicz, Andrzej
- Drozdz, Dorota
- Zachwieja, Katarzyna
- Miklaszewska, Monika
- Szczepanska, Maria
- Adamczyk, Piotr
- Tkaczyk, Marcin
- Tomczyk, Daria
- Sikora, Przemyslaw
- Mizerska-Wasiak, Malgorzata
- Krzemien, Grazyna
- Szmigielska, Agnieszka
- Zaniew, Marcin
- Lozanovski, Vladimir J
- Gucev, Zoran
- Ionita-Laza, Iuliana
- Stanaway, Ian B
- Crosslin, David R
- Wong, Craig S
- Hildebrandt, Friedhelm
- Barasch, Jonathan
- Kenny, Eimear E
- Loos, Ruth J F
- Levy, Brynn
- Ghiggeri, Gian Marco
- Hakonarson, Hakon
- Latos-Bieleńska, Anna
- Materna-Kiryluk, Anna
- Darlow, John M
- Tasic, Velibor
- Willer, Cristen
- Kiryluk, Krzysztof
- Sanna-Cherchi, Simone
- Mendelsohn, Cathy L
- Gharavi, Ali G
2021
Volltextzugriff (PDF)
American journal of human genetics, 2021-02, Vol.108 (2), p.357-367
- Weng, Patricia L.
- Majmundar, Amar J.
- Khan, Kamal
- Lim, Tze Y.
- Shril, Shirlee
- Jin, Gina
- Musgrove, John
- Wang, Minxian
- Ahram, Dina F.
- Aggarwal, Vimla S.
- Bier, Louise E.
- Heinzen, Erin L.
- Onuchic-Whitford, Ana C.
- Mann, Nina
- Buerger, Florian
- Schneider, Ronen
- Deutsch, Konstantin
- Kitzler, Thomas M.
- Klämbt, Verena
- Kolb, Amy
- Mao, Youying
- Moufawad El Achkar, Christelle
- Mitrotti, Adele
- Martino, Jeremiah
- Beck, Bodo B.
- Altmüller, Janine
- Benz, Marcus R.
- Yano, Shoji
- Mikati, Mohamad A.
- Gunduz, Talha
- Cope, Heidi
- Shashi, Vandana
- Trachtman, Howard
- Bodria, Monica
- Caridi, Gianluca
- Pisani, Isabella
- Fiaccadori, Enrico
- AbuMaziad, Asmaa S.
- Martinez-Agosto, Julian A.
- Yadin, Ora
- Zuckerman, Jonathan
- Kim, Arang
- John-Kroegel, Ulrike
- Tyndall, Amanda V.
- Parboosingh, Jillian S.
- Innes, A. Micheil
- Bierzynska, Agnieszka
- Koziell, Ania B.
- Muorah, Mordi
- Saleem, Moin A.
- Hoefele, Julia
- Riedhammer, Korbinian M.
- Gharavi, Ali G.
- Jobanputra, Vaidehi
- Pierce-Hoffman, Emma
- Seaby, Eleanor G.
- O’Donnell-Luria, Anne
- Rehm, Heidi L.
- Mane, Shrikant
- D’Agati, Vivette D.
- Pollak, Martin R.
- Ghiggeri, Gian Marco
- Lifton, Richard P.
- Goldstein, David B.
- Davis, Erica E.
- Hildebrandt, Friedhelm
- Sanna-Cherchi, Simone
2021
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.527-527
- Ahram, Dina
- Mitrotti, Adele
- Dharmadhikari, Avinash V.
- Jin, Gina Ying
- Kil, Byum hee
- Cocchi, Enrico
- Scolari, Francesco
- Saraga, Marijan
- Milosevic, Danko
- Zaza, Gianluigi
- Santoro, Domenico
- Montini, Giovanni
- Allegri, Landino
- Esposito, Pasquale
- Feriozzi, Sandro
- Weng, Patricia L.
- Gesualdo, Loreto
- Aggarwal, Vimla
- Appel, Gerald B.
- Fiaccadori, Enrico
- Gharavi, Ali G.
- Caliskan, Yasar
- Ghiggeri, Gian Marco
- Goldstein, David B.
- Sanna-Cherchi, Simone
2020
Volltextzugriff (PDF)
Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.528-528
- Povysil, Gundula
- Ahram, Dina
- Mitrotti, Adele
- Jin, Gina Ying
- Scolari, Francesco
- Santoro, Domenico
- Gesualdo, Loreto
- Fiaccadori, Enrico
- Milosevic, Danko
- Tasic, Velibor
- Saraga, Marijan
- Zaza, Gianluigi
- Westland, Rik
- e silva, Ana cristina Simões
- Gharavi, Ali G.
- Armisen, Javier
- Paul, Dirk S.
- Haefliger, Carolina
- Ghiggeri, Gian Marco
- Goldstein, David B.
- Sanna-Cherchi, Simone
2020
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Electronic Journals Library
- IngentaConnect Journals
- MEDLINE
- Journals@Ovid Complete
- Elsevier ScienceDirect Journals Collection
- Wiley Online Library Journals Frontfile Complete
- Single Journals
- IngentaConnect Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Nexis Uni
- Nature_系列刊
- Wiley Online Library Full Collection 2018
- ProQuest Dissertations & Theses A&I
Zeitschrift / Serie
- Journal Of The American Society Of Nephrology
- American Journal Of Human Genetics
- Clinical Case Reports
- Human Mutation
- Kidney International Reports
- Molecular Genetics And Metabolism
- Nature Genetics
- The American Journal Of Human Genetics
- 6th International Conference On Applied Human Factors And Ergonomics
- American Journal Of Kidney Diseases
Neu hinzugefügt