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161.
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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. [electronic resource] by
- Ashikov, Angel
- Abu Bakar, Nurulamin
- Wen, Xiao-Yan
- Niemeijer, Marco
- Rodrigues Pinto Osorio, Glentino
- Brand-Arzamendi, Koroboshka
- Hasadsri, Linda
- Hansikova, Hana
- Raymond, Kimiyo
- Vicogne, Dorothée
- Ondruskova, Nina
- Simon, Marleen E H
- Pfundt, Rolph
- Timal, Sharita
- Beumers, Roel
- Biot, Christophe
- Smeets, Roel
- Kersten, Marjan
- Huijben, Karin
- Linders, Peter T A
- van den Bogaart, Geert
- van Hijum, Sacha A F T
- Rodenburg, Richard
- van den Heuvel, Lambertus P
- van Spronsen, Francjan
- Honzik, Tomas
- Foulquier, Francois
- van Scherpenzeel, Monique
- Lefeber, Dirk J
- Mirjam, Wamelink
- Han, Brunner
- Helen, Mundy
- Helen, Michelakakis
- Peter, van Hasselt
- Jiddeke, van de Kamp
- Diego, Martinelli
- Lars, Morkrid
- Katja, Brocke Holmefjord
- Jozef, Hertecant
- Majid, Alfadhel
- Kevin, Carpenter
- Johann, Te Water Naude
Producer: 20190308
In:
Human molecular genetics vol. 27
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162.
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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. [electronic resource] by
- Van Damme, Tim
- Gardeitchik, Thatjana
- Mohamed, Miski
- Guerrero-Castillo, Sergio
- Freisinger, Peter
- Guillemyn, Brecht
- Kariminejad, Ariana
- Dalloyaux, Daisy
- van Kraaij, Sanne
- Lefeber, Dirk J
- Syx, Delfien
- Steyaert, Wouter
- De Rycke, Riet
- Hoischen, Alexander
- Kamsteeg, Erik-Jan
- Wong, Sunnie Y
- van Scherpenzeel, Monique
- Jamali, Payman
- Brandt, Ulrich
- Nijtmans, Leo
- Korenke, G Christoph
- Chung, Brian H Y
- Mak, Christopher C Y
- Hausser, Ingrid
- Kornak, Uwe
- Fischer-Zirnsak, Björn
- Strom, Tim M
- Meitinger, Thomas
- Alanay, Yasemin
- Utine, Gulen E
- Leung, Peter K C
- Ghaderi-Sohi, Siavash
- Coucke, Paul
- Symoens, Sofie
- De Paepe, Anne
- Thiel, Christian
- Haack, Tobias B
- Malfait, Fransiska
- Morava, Eva
- Callewaert, Bert
- Wevers, Ron A
Producer: 20170504
In:
American journal of human genetics vol. 100
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163.
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. [electronic resource] by
- Jansen, Jos C
- Cirak, Sebahattin
- van Scherpenzeel, Monique
- Timal, Sharita
- Reunert, Janine
- Rust, Stephan
- Pérez, Belén
- Vicogne, Dorothée
- Krawitz, Peter
- Wada, Yoshinao
- Ashikov, Angel
- Pérez-Cerdá, Celia
- Medrano, Celia
- Arnoldy, Andrea
- Hoischen, Alexander
- Huijben, Karin
- Steenbergen, Gerry
- Quelhas, Dulce
- Diogo, Luisa
- Rymen, Daisy
- Jaeken, Jaak
- Guffon, Nathalie
- Cheillan, David
- van den Heuvel, Lambertus P
- Maeda, Yusuke
- Kaiser, Olaf
- Schara, Ulrike
- Gerner, Patrick
- van den Boogert, Marjolein A W
- Holleboom, Adriaan G
- Nassogne, Marie-Cécile
- Sokal, Etienne
- Salomon, Jody
- van den Bogaart, Geert
- Drenth, Joost P H
- Huynen, Martijn A
- Veltman, Joris A
- Wevers, Ron A
- Morava, Eva
- Matthijs, Gert
- Foulquier, François
- Marquardt, Thorsten
- Lefeber, Dirk J
Producer: 20160622
In:
American journal of human genetics vol. 98
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164.
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Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by
- van Karnebeek, Clara D M
- Bonafé, Luisa
- Wen, Xiao-Yan
- Tarailo-Graovac, Maja
- Balzano, Sara
- Royer-Bertrand, Beryl
- Ashikov, Angel
- Garavelli, Livia
- Mammi, Isabella
- Turolla, Licia
- Breen, Catherine
- Donnai, Dian
- Cormier, Valerie
- Heron, Delphine
- Nishimura, Gen
- Uchikawa, Shinichi
- Campos-Xavier, Belinda
- Rossi, Antonio
- Hennet, Thierry
- Brand-Arzamendi, Koroboshka
- Rozmus, Jacob
- Harshman, Keith
- Stevenson, Brian J
- Girardi, Enrico
- Superti-Furga, Giulio
- Dewan, Tammie
- Collingridge, Alissa
- Halparin, Jessie
- Ross, Colin J
- Van Allen, Margot I
- Rossi, Andrea
- Engelke, Udo F
- Kluijtmans, Leo A J
- van der Heeft, Ed
- Renkema, Herma
- de Brouwer, Arjan
- Huijben, Karin
- Zijlstra, Fokje
- Heisse, Thorben
- Boltje, Thomas
- Wasserman, Wyeth W
- Rivolta, Carlo
- Unger, Sheila
- Lefeber, Dirk J
- Wevers, Ron A
- Superti-Furga, Andrea
Publication details: Nature genetics 05 2017
In:
Nature genetics vol. 49
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165.
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development. [electronic resource] by
- van Karnebeek, Clara D M
- Bonafé, Luisa
- Wen, Xiao-Yan
- Tarailo-Graovac, Maja
- Balzano, Sara
- Royer-Bertrand, Beryl
- Ashikov, Angel
- Garavelli, Livia
- Mammi, Isabella
- Turolla, Licia
- Breen, Catherine
- Donnai, Dian
- Cormier-Daire, Valérie
- Heron, Delphine
- Nishimura, Gen
- Uchikawa, Shinichi
- Campos-Xavier, Belinda
- Rossi, Antonio
- Hennet, Thierry
- Brand-Arzamendi, Koroboshka
- Rozmus, Jacob
- Harshman, Keith
- Stevenson, Brian J
- Girardi, Enrico
- Superti-Furga, Giulio
- Dewan, Tammie
- Collingridge, Alissa
- Halparin, Jessie
- Ross, Colin J
- Van Allen, Margot I
- Rossi, Andrea
- Engelke, Udo F
- Kluijtmans, Leo A J
- van der Heeft, Ed
- Renkema, Herma
- de Brouwer, Arjan
- Huijben, Karin
- Zijlstra, Fokje
- Heise, Torben
- Boltje, Thomas
- Wasserman, Wyeth W
- Rivolta, Carlo
- Unger, Sheila
- Lefeber, Dirk J
- Wevers, Ron A
- Superti-Furga, Andrea
Producer: 20170908
In:
Nature genetics vol. 48
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166.
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Multiple phenotypes in phosphoglucomutase 1 deficiency. [electronic resource] by
- Tegtmeyer, Laura C
- Rust, Stephan
- van Scherpenzeel, Monique
- Ng, Bobby G
- Losfeld, Marie-Estelle
- Timal, Sharita
- Raymond, Kimiyo
- He, Ping
- Ichikawa, Mie
- Veltman, Joris
- Huijben, Karin
- Shin, Yoon S
- Sharma, Vandana
- Adamowicz, Maciej
- Lammens, Martin
- Reunert, Janine
- Witten, Anika
- Schrapers, Esther
- Matthijs, Gert
- Jaeken, Jaak
- Rymen, Daisy
- Stojkovic, Tanya
- Laforêt, Pascal
- Petit, François
- Aumaître, Olivier
- Czarnowska, Elzbieta
- Piraud, Monique
- Podskarbi, Teodor
- Stanley, Charles A
- Matalon, Reuben
- Burda, Patricie
- Seyyedi, Soraya
- Debus, Volker
- Socha, Piotr
- Sykut-Cegielska, Jolanta
- van Spronsen, Francjan
- de Meirleir, Linda
- Vajro, Pietro
- DeClue, Terry
- Ficicioglu, Can
- Wada, Yoshinao
- Wevers, Ron A
- Vanderschaeghe, Dieter
- Callewaert, Nico
- Fingerhut, Ralph
- van Schaftingen, Emile
- Freeze, Hudson H
- Morava, Eva
- Lefeber, Dirk J
- Marquardt, Thorsten
Producer: 20140211
In:
The New England journal of medicine vol. 370
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167.
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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. [electronic resource] by
- Altassan, Ruqaiah
- Péanne, Romain
- Jaeken, Jaak
- Barone, Rita
- Bidet, Muad
- Borgel, Delphine
- Brasil, Sandra
- Cassiman, David
- Cechova, Anna
- Coman, David
- Corral, Javier
- Correia, Joana
- de la Morena-Barrio, María Eugenia
- de Lonlay, Pascale
- Dos Reis, Vanessa
- Ferreira, Carlos R
- Fiumara, Agata
- Francisco, Rita
- Freeze, Hudson
- Funke, Simone
- Gardeitchik, Thatjana
- Gert, Matthijs
- Girad, Muriel
- Giros, Marisa
- Grünewald, Stephanie
- Hernández-Caselles, Trinidad
- Honzik, Tomas
- Hutter, Marlen
- Krasnewich, Donna
- Lam, Christina
- Lee, Joy
- Lefeber, Dirk
- Marques-de-Silva, Dorinda
- Martinez, Antonio F
- Moravej, Hossein
- Õunap, Katrin
- Pascoal, Carlota
- Pascreau, Tiffany
- Patterson, Marc
- Quelhas, Dulce
- Raymond, Kimiyo
- Sarkhail, Peymaneh
- Schiff, Manuel
- Seroczyńska, Małgorzata
- Serrano, Mercedes
- Seta, Nathalie
- Sykut-Cegielska, Jolanta
- Thiel, Christian
- Tort, Federic
- Vals, Mari-Anne
- Videira, Paula
- Witters, Peter
- Zeevaert, Renate
- Morava, Eva
Producer: 20200401
In:
Journal of inherited metabolic disease vol. 42
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168.
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. [electronic resource] by
- Schuurs-Hoeijmakers, Janneke H M
- Geraghty, Michael T
- Kamsteeg, Erik-Jan
- Ben-Salem, Salma
- de Bot, Susanne T
- Nijhof, Bonnie
- van de Vondervoort, Ilse I G M
- van der Graaf, Marinette
- Nobau, Anna Castells
- Otte-Höller, Irene
- Vermeer, Sascha
- Smith, Amanda C
- Humphreys, Peter
- Schwartzentruber, Jeremy
- Ali, Bassam R
- Al-Yahyaee, Saeed A
- Tariq, Said
- Pramathan, Thachillath
- Bayoumi, Riad
- Kremer, Hubertus P H
- van de Warrenburg, Bart P
- van den Akker, Willem M R
- Gilissen, Christian
- Veltman, Joris A
- Janssen, Irene M
- Vulto-van Silfhout, Anneke T
- van der Velde-Visser, Saskia
- Lefeber, Dirk J
- Diekstra, Adinda
- Erasmus, Corrie E
- Willemsen, Michèl A
- Vissers, Lisenka E L M
- Lammens, Martin
- van Bokhoven, Hans
- Brunner, Han G
- Wevers, Ron A
- Schenck, Annette
- Al-Gazali, Lihadh
- de Vries, Bert B A
- de Brouwer, Arjan P M
Producer: 20130214
In:
American journal of human genetics vol. 91
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169.
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Pathogenic variants in glutamyl-tRNA [electronic resource] by
- Friederich, Marisa W
- Timal, Sharita
- Powell, Christopher A
- Dallabona, Cristina
- Kurolap, Alina
- Palacios-Zambrano, Sara
- Bratkovic, Drago
- Derks, Terry G J
- Bick, David
- Bouman, Katelijne
- Chatfield, Kathryn C
- Damouny-Naoum, Nadine
- Dishop, Megan K
- Falik-Zaccai, Tzipora C
- Fares, Fuad
- Fedida, Ayalla
- Ferrero, Ileana
- Gallagher, Renata C
- Garesse, Rafael
- Gilberti, Micol
- González, Cristina
- Gowan, Katherine
- Habib, Clair
- Halligan, Rebecca K
- Kalfon, Limor
- Knight, Kaz
- Lefeber, Dirk
- Mamblona, Laura
- Mandel, Hanna
- Mory, Adi
- Ottoson, John
- Paperna, Tamar
- Pruijn, Ger J M
- Rebelo-Guiomar, Pedro F
- Saada, Ann
- Sainz, Bruno
- Salvemini, Hayley
- Schoots, Mirthe H
- Smeitink, Jan A
- Szukszto, Maciej J
- Ter Horst, Hendrik J
- van den Brandt, Frans
- van Spronsen, Francjan J
- Veltman, Joris A
- Wartchow, Eric
- Wintjes, Liesbeth T
- Zohar, Yaniv
- Fernández-Moreno, Miguel A
- Baris, Hagit N
- Donnini, Claudia
- Minczuk, Michal
- Rodenburg, Richard J
- Van Hove, Johan L K
Producer: 20190107
In:
Nature communications vol. 9
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170.
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. [electronic resource] by
- Hengel, Holger
- Bosso-Lefèvre, Célia
- Grady, George
- Szenker-Ravi, Emmanuelle
- Li, Hankun
- Pierce, Sarah
- Lebigot, Élise
- Tan, Thong-Teck
- Eio, Michelle Y
- Narayanan, Gunaseelan
- Utami, Kagistia Hana
- Yau, Monica
- Handal, Nader
- Deigendesch, Werner
- Keimer, Reinhard
- Marzouqa, Hiyam M
- Gunay-Aygun, Meral
- Muriello, Michael J
- Verhelst, Helene
- Weckhuysen, Sarah
- Mahida, Sonal
- Naidu, Sakkubai
- Thomas, Terrence G
- Lim, Jiin Ying
- Tan, Ee Shien
- Haye, Damien
- Willemsen, Michèl A A P
- Oegema, Renske
- Mitchell, Wendy G
- Pierson, Tyler Mark
- Andrews, Marisa V
- Willing, Marcia C
- Rodan, Lance H
- Barakat, Tahsin Stefan
- van Slegtenhorst, Marjon
- Gavrilova, Ralitza H
- Martinelli, Diego
- Gilboa, Tal
- Tamim, Abdullah M
- Hashem, Mais O
- AlSayed, Moeenaldeen D
- Abdulrahim, Maha M
- Al-Owain, Mohammed
- Awaji, Ali
- Mahmoud, Adel A H
- Faqeih, Eissa A
- Asmari, Ali Al
- Algain, Sulwan M
- Jad, Lamyaa A
- Aldhalaan, Hesham M
- Helbig, Ingo
- Koolen, David A
- Riess, Angelika
- Kraegeloh-Mann, Ingeborg
- Bauer, Peter
- Gulsuner, Suleyman
- Stamberger, Hannah
- Ng, Alvin Yu Jin
- Tang, Sha
- Tohari, Sumanty
- Keren, Boris
- Schultz-Rogers, Laura E
- Klee, Eric W
- Barresi, Sabina
- Tartaglia, Marco
- Mor-Shaked, Hagar
- Maddirevula, Sateesh
- Begtrup, Amber
- Telegrafi, Aida
- Pfundt, Rolph
- Schüle, Rebecca
- Ciruna, Brian
- Bonnard, Carine
- Pouladi, Mahmoud A
- Stewart, James C
- Claridge-Chang, Adam
- Lefeber, Dirk J
- Alkuraya, Fowzan S
- Mathuru, Ajay S
- Venkatesh, Byrappa
- Barycki, Joseph J
- Simpson, Melanie A
- Jamuar, Saumya S
- Schöls, Ludger
- Reversade, Bruno
Producer: 20200413
In:
Nature communications vol. 11
Availability: No items available.
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