000 02242 a2200745 4500
005 20250516060049.0
264 0 _c20120330
008 201203s 0 0 eng d
022 _a1364-6753
024 7 _a10.1007/s10048-011-0299-0
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDemuth, Ilja
245 0 0 _aNew mutations in the ATM gene and clinical data of 25 AT patients.
_h[electronic resource]
260 _bNeurogenetics
_cNov 2011
300 _a273-82 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAtaxia Telangiectasia
_xgenetics
650 0 4 _aAtaxia Telangiectasia Mutated Proteins
650 0 4 _aCell Cycle Proteins
_xgenetics
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA-Binding Proteins
_xgenetics
650 0 4 _aFemale
650 0 4 _aHaplotypes
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aProtein Serine-Threonine Kinases
_xgenetics
650 0 4 _aRNA Splicing
650 0 4 _aTumor Suppressor Proteins
_xgenetics
700 1 _aDutrannoy, Véronique
700 1 _aMarques, Wilson
700 1 _aNeitzel, Heidemarie
700 1 _aSchindler, Detlev
700 1 _aDimova, Petja S
700 1 _aChrzanowska, Krystyna H
700 1 _aBojinova, Veneta
700 1 _aGregorek, Hanna
700 1 _aGraul-Neumann, Luitgard M
700 1 _avon Moers, Arpad
700 1 _aSchulze, Ilka
700 1 _aNicke, Marion
700 1 _aBora, Elcin
700 1 _aCankaya, Tufan
700 1 _aOláh, Éva
700 1 _aKiss, Csongor
700 1 _aBessenyei, Beáta
700 1 _aSzakszon, Katalin
700 1 _aGruber-Sedlmayr, Ursula
700 1 _aKroisel, Peter Michael
700 1 _aSodia, Sigrun
700 1 _aGoecke, Timm O
700 1 _aDörk, Thilo
700 1 _aDigweed, Martin
700 1 _aSperling, Karl
700 1 _ade Sá, Joaquim
700 1 _aLourenco, Charles Marques
700 1 _aVaron, Raymonda
773 0 _tNeurogenetics
_gvol. 12
_gno. 4
_gp. 273-82
856 4 0 _uhttps://doi.org/10.1007/s10048-011-0299-0
_zAvailable from publisher's website
999 _c21201541
_d21201541