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Wyszukujesz frazę ""Hildebrand, Michael S."" wg kryterium: Autor


Tytuł :
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Autorzy :
Stamberger, HannahAff1, Aff2
Hammer, Trine B.Aff3, Aff4
Gardella, ElenaAff3, Aff5
Vlaskamp, Danique R. M.Aff1, Aff6, Aff7
Bertelsen, Birgitte
Mandelstam, SimoneAff9, Aff10, Aff11, Aff12, Aff13
de Lange, Iris
Zhang, Jing
Myers, Candace T.
Fenger, Christina
Afawi, Zaid
Almanza Fuerte, Edith P.
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, BruriaAff20, Aff21
Bennett, Mark F.Aff1, Aff22, Aff23
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Øyvind L.
Cairns, Anita
Caumes, Roseline
Chatron, Nicolas
Dale, Russell C.
de Geus, Christa
Edery, PatrickAff29, Aff32
Gill, Deepak
Granild-Jensen, Jacob Bie
Gunderson, Lauren
Gunning, Boudewijn
Heimer, GaliAff20, Aff21
Helle, Johan R.
Hildebrand, Michael S.Aff1, Aff10
Hollingsworth, Georgie
Kharytonov, Volodymyr
Klee, Eric W.Aff34, Aff37
Koeleman, Bobby P. C.
Koolen, David A.
Korff, Christian
Küry, Sébastien
Lesca, Gaetan
Lev, DoritAff21, Aff40
Leventer, Richard J.Aff9, Aff10, Aff11
Mackay, Mark T.Aff9, Aff10, Aff11
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Montomoli, Martino
Morava, EvaAff34, Aff37
Moutton, SebastienAff43, Aff44
Muir, Alison M.
Parrini, Elena
Procopis, PeterAff30, Aff45
Ranza, Emmanuelle
Reed, Laura
Reif, Philipp S.
Rosenow, Felix
Rossi, MassimilianoAff29, Aff32
Sadleir, Lynette G.
Sadoway, Tara
Schelhaas, Helenius J.
Schneider, Amy L.
Shah, Krati
Shalev, Ruth
Sisodiya, Sanjay M.
Smol, Thomas
Stumpel, Connie T. R. M.
Stuurman, Kyra
Symonds, Joseph D.Aff54, Aff55
Mau-Them, Frederic TranAff56, Aff57
Verbeek, Nienke
Verhoeven, Judith S.
Wallace, GeoffreyAff27, Aff59
Yosovich, Keren
Zarate, Yuri A.
Zerem, AyeletAff21, Aff62
Zuberi, Sameer M.Aff54, Aff55
Guerrini, Renzo
Mefford, Heather C.
Patel, Chirag
Zhang, Yue-Hua
Møller, Rikke S.Aff3, Aff5
Scheffer, Ingrid E.Aff1, Aff9, Aff10, Aff11, Aff13
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373
Czasopismo naukowe
Tytuł :
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Autorzy :
Bennett, Mark F.Aff1, Aff2, Aff3
Oliver, Karen L.Aff1, Aff3
Regan, Brigid M.
Bellows, Susannah T.
Schneider, Amy L.
Rafehi, HaloomAff1, Aff2, Aff3
Sikta, Neblina
Crompton, Douglas E.Aff3, Aff4
Coleman, Matthew
Hildebrand, Michael S.Aff3, Aff5
Corbett, Mark A.
Kroes, Thessa
Gecz, JozefAff6, Aff7
Scheffer, Ingrid E.Aff3, Aff5, Aff8, Aff9
Berkovic, Samuel F.
Bahlo, MelanieAff1, Aff2
Pokaż więcej
Źródło :
European Journal of Human Genetics. 28(7):973-978
Czasopismo naukowe
Tytuł :
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Autorzy :
Khan, KamalAff1, Aff2, Aff3
Zech, MichaelAff4, Aff5
Morgan, Angela T.
Amor, David J.
Skorvanek, MatejAff7, Aff8
Khan, Tahir N.Aff1, Aff17
Hildebrand, Michael S.Aff6, Aff9
Jackson, Victoria E.
Scerri, Thomas S.
Coleman, Matthew
Rigbye, Kristin A.
Scheffer, Ingrid E.Aff9, Aff11
Bahlo, Melanie
Wagner, MatiasAff4, Aff5
Lam, Daniel D.
Berutti, Riccardo
Havránková, Petra
Fečíková, Anna
Strom, Tim M.Aff5, Aff12
Han, VladimirAff7, Aff8
Dosekova, PetraAff7, Aff8
Gdovinova, ZuzanaAff7, Aff8
Laccone, Franco
Jameel, Muhammad
Mooney, Marie R.
Baig, Shahid M.Aff2, Aff3
Jech, Robert
Davis, Erica E.
Katsanis, Nicholas
Winkelmann, JulianeAff4, Aff5, Aff15, Aff16
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(11):2532-2542
Czasopismo naukowe
Tytuł :
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
Autorzy :
Hildebrand, Joanne M.Aff1, Aff2
Kauppi, MariaAff1, Aff2
Majewski, Ian J.Aff1, Aff2
Liu, ZikouAff1, Aff2
Cox, Allison J.
Miyake, Sanae
Petrie, Emma J.Aff1, Aff2
Silk, Michael A.Aff5, Aff6
Li, Zhixiu
Tanzer, Maria C.Aff1, Aff2, Aff8
Brumatti, GabrielaAff1, Aff2
Young, Samuel N.Aff1, Aff2
Hall, CathrineAff1, Aff2
Garnish, Sarah E.Aff1, Aff2
Corbin, JasonAff1, Aff2
Stutz, Michael D.Aff1, Aff2, Aff9
Di Rago, LadinaAff1, Aff2
Gangatirkar, PradnyaAff1, Aff2
Josefsson, Emma C.Aff1, Aff2
Rigbye, KristinAff1, Aff2, Aff10
Anderton, HollyAff1, Aff2
Rickard, James A.Aff1, Aff2, Aff11
Tripaydonis, AnneAff1, Aff2, Aff11
Sheridan, JulieAff1, Aff2
Scerri, Thomas S.Aff1, Aff2
Jackson, Victoria E.Aff1, Aff2
Czabotar, Peter E.Aff1, Aff2
Zhang, Jian-GuoAff1, Aff2
Varghese, LeilaAff1, Aff2, Aff12
Allison, Cody C.Aff1, Aff2
Pellegrini, MarcAff1, Aff2
Tannahill, Gillian M.Aff1, Aff2, Aff13
Hatchell, Esme C.Aff1, Aff2
Willson, Tracy A.Aff1, Aff2
Stockwell, DinaAff1, Aff2
de Graaf, Carolyn A.Aff1, Aff2
Collinge, JanelleAff1, Aff2
Hilton, Adrienne
Silke, NatashaAff1, Aff2
Spall, Sukhdeep K.Aff1, Aff2
Chau, DiepAff1, Aff2, Aff14
Athanasopoulos, VickiAff15, Aff16
Metcalf, DonaldAff1, Aff2
Laxer, Ronald M.
Bassuk, Alexander G.Aff3, Aff18
Darbro, Benjamin W.
Fiatarone Singh, Maria A.
Vlahovich, Nicole
Hughes, David
Kozlovskaia, MariaAff20, Aff21
Ascher, David B.Aff5, Aff6
Warnatz, KlausAff22, Aff23
Venhoff, Nils
Thiel, Jens
Biben, ChristineAff1, Aff2
Blum, Stefan
Reveille, John
Hildebrand, Michael S.Aff26, Aff27
Vinuesa, Carola G.Aff15, Aff16
McCombe, Pamela
Brown, Matthew A.Aff7, Aff29
Kile, Benjamin T.Aff1, Aff2, Aff30
McLean, Catriona
Bahlo, MelanieAff1, Aff2
Masters, Seth L.Aff1, Aff2
Nakano, Hiroyasu
Ferguson, Polly J.
Murphy, James M.Aff1, Aff2
Alexander, Warren S.Aff1, Aff2
Silke, JohnAff1, Aff2
Pokaż więcej
Źródło :
Nature Communications. 11(1)
Czasopismo naukowe
Tytuł :
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
Autorzy :
Eising, Else
Carrion-Castillo, Amaia
Vino, Arianna
Strand, Edythe A.
Jakielski, Kathy J.
Scerri, Thomas S.Aff4, Aff5
Hildebrand, Michael S.
Webster, Richard
Ma, Alan
Mazoyer, Bernard
Francks, ClydeAff1, Aff10
Bahlo, MelanieAff4, Aff5
Scheffer, Ingrid E.Aff6, Aff11
Morgan, Angela T.Aff6, Aff12
Shriberg, Lawrence D.
Fisher, Simon E.Aff1, Aff10
Pokaż więcej
Źródło :
Molecular Psychiatry. 24(7):1065-1078
Czasopismo naukowe
Tytuł :
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
Autorzy :
Booth, Kevin T.Aff1, Aff2
Askew, James W.
Talebizadeh, Zohreh
Huygen, Patrick L. M.
Eudy, James
Kenyon, Judith
Hoover, Denise
Hildebrand, Michael S.
Smith, Katherine R.
Bahlo, MelanieAff8, Aff9
Kimberling, William J.
Smith, Richard J. H.
Azaiez, Hela
Smith, Shelley D.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):948-954
Czasopismo naukowe

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