Record title
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Record identifier
TN_cdi_hal_primary_oai_HAL_hal_02187752v1
Record permalink
https://collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02187752v1
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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Full title
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Author / Creator
Publisher
United States: Nature Publishing Group
Journal title
Nature genetics, 2017, Vol.49 (10), p.1529-1538
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02187752v1
Language
English
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Alternative Titles
Full title
Authors, Artists and Contributors
Author / Creator
Braun, Daniela A
Rao, Jia
Mollet, Geraldine
Schapiro, David
Daugeron, Marie-Claire
Tan, Weizhen
Gribouval, Olivier
Boyer, Olivia
Revy, Patrick
Jobst-Schwan, Tilman
Schmidt, Johanna Magdalena
Lawson, Jennifer A
Schanze, Denny
Ashraf, Shazia
Ullmann, Jeremy F P
Hoogstraten, Charlotte A
Boddaert, Nathalie
Collinet, Bruno
Martin, Gaëlle
Liger, Dominique
Lovric, Svjetlana
Furlano, Monica
Guerrera, I Chiara
Sanchez-Ferras, Oraly
Hu, Jennifer F
Boschat, Anne-Claire
Sanquer, Sylvia
Menten, Björn
Vergult, Sarah
De Rocker, Nina
Airik, Merlin
Hermle, Tobias
Shril, Shirlee
Widmeier, Eugen
Gee, Heon Yung
Choi, Won-Il
Sadowski, Carolin E
Pabst, Werner L
Warejko, Jillian K
Daga, Ankana
Basta, Tamara
Matejas, Verena
Scharmann, Karin
Kienast, Sana D
Behnam, Babak
Beeson, Brendan
Begtrup, Amber
Bruce, Malcolm
Ch'ng, Gaik-Siew
Lin, Shuan-Pei
Chang, Jui-Hsing
Chen, Chao-Huei
Cho, Megan T
Gaffney, Patrick M
Gipson, Patrick E
Hsu, Chyong-Hsin
Kari, Jameela A
Ke, Yu-Yuan
Kiraly-Borri, Cathy
Lai, Wai-Ming
Lemyre, Emmanuelle
Littlejohn, Rebecca Okashah
Masri, Amira
Moghtaderi, Mastaneh
Praet, Marleen
Prasad, Chitra
Prytula, Agnieszka
Roeder, Elizabeth R
Rump, Patrick
Schnur, Rhonda E
Shiihara, Takashi
Sinha, Manish D
Soliman, Neveen A
Soulami, Kenza
Sweetser, David A
Tsai, Wen-Hui
Tsai, Jeng-Daw
Topaloglu, Rezan
Vester, Udo
Viskochil, David H
Vatanavicharn, Nithiwat
Waxler, Jessica L
Wierenga, Klaas J
Wolf, Matthias T F
Wong, Sik-Nin
Leidel, Sebastian A
Truglio, Gessica
Dedon, Peter C
Poduri, Annapurna
Mane, Shrikant
Lifton, Richard P
Bouchard, Maxime
Kannu, Peter
Chitayat, David
Magen, Daniella
Callewaert, Bert
van Tilbeurgh, Herman
Zenker, Martin
Antignac, Corinne
Hildebrandt, Friedhelm
Rao, Jia
Mollet, Geraldine
Schapiro, David
Daugeron, Marie-Claire
Tan, Weizhen
Gribouval, Olivier
Boyer, Olivia
Revy, Patrick
Jobst-Schwan, Tilman
Schmidt, Johanna Magdalena
Lawson, Jennifer A
Schanze, Denny
Ashraf, Shazia
Ullmann, Jeremy F P
Hoogstraten, Charlotte A
Boddaert, Nathalie
Collinet, Bruno
Martin, Gaëlle
Liger, Dominique
Lovric, Svjetlana
Furlano, Monica
Guerrera, I Chiara
Sanchez-Ferras, Oraly
Hu, Jennifer F
Boschat, Anne-Claire
Sanquer, Sylvia
Menten, Björn
Vergult, Sarah
De Rocker, Nina
Airik, Merlin
Hermle, Tobias
Shril, Shirlee
Widmeier, Eugen
Gee, Heon Yung
Choi, Won-Il
Sadowski, Carolin E
Pabst, Werner L
Warejko, Jillian K
Daga, Ankana
Basta, Tamara
Matejas, Verena
Scharmann, Karin
Kienast, Sana D
Behnam, Babak
Beeson, Brendan
Begtrup, Amber
Bruce, Malcolm
Ch'ng, Gaik-Siew
Lin, Shuan-Pei
Chang, Jui-Hsing
Chen, Chao-Huei
Cho, Megan T
Gaffney, Patrick M
Gipson, Patrick E
Hsu, Chyong-Hsin
Kari, Jameela A
Ke, Yu-Yuan
Kiraly-Borri, Cathy
Lai, Wai-Ming
Lemyre, Emmanuelle
Littlejohn, Rebecca Okashah
Masri, Amira
Moghtaderi, Mastaneh
Praet, Marleen
Prasad, Chitra
Prytula, Agnieszka
Roeder, Elizabeth R
Rump, Patrick
Schnur, Rhonda E
Shiihara, Takashi
Sinha, Manish D
Soliman, Neveen A
Soulami, Kenza
Sweetser, David A
Tsai, Wen-Hui
Tsai, Jeng-Daw
Topaloglu, Rezan
Vester, Udo
Viskochil, David H
Vatanavicharn, Nithiwat
Waxler, Jessica L
Wierenga, Klaas J
Wolf, Matthias T F
Wong, Sik-Nin
Leidel, Sebastian A
Truglio, Gessica
Dedon, Peter C
Poduri, Annapurna
Mane, Shrikant
Lifton, Richard P
Bouchard, Maxime
Kannu, Peter
Chitayat, David
Magen, Daniella
Callewaert, Bert
van Tilbeurgh, Herman
Zenker, Martin
Antignac, Corinne
Hildebrandt, Friedhelm
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02187752v1
Permalink
https://collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02187752v1
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