All individuals with variants in gene CDKL5

65 entries on 1 page. Showing entries 1 - 65.
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AscendingIndividual ID     

Reference     

Ethnic origin     

Remarks     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00004150 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004151 Nemos C1, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.(2009) - - RTT - 1 1 Y Yang
00004152 "White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010) - - RTT - 1 1 Y Yang
00004153 "White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010) - - RTT - 1 1 Y Yang
00004154 "White R1, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J(2010) - - RTT - 1 1 Y Yang
00004155 Saletti V1, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.(2009) - - RTT - 1 1 Y Yang
00004156 "Weaving LS1, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H(2004) - - RTT - 1 1 Y Yang
00004157 "Weaving LS1, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H(2004) - - RTT - 1 1 Y Yang
00004158 Tao J1, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM.(2004) - - RTT - 1 1 Y Yang
00004159 Tao J1, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gécz J, Ropers HH, Kalscheuer VM.(2004) - - RTT - 1 1 Y Yang
00004160 Scala E1, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.(2005) - - RTT - 1 1 Y Yang
00004161 Nectoux J1, Heron D, Tallot M, Chelly J, Bienvenu T.(2006) - - RTT - 1 1 Y Yang
00004162 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004163 Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.(2008) - - RTT - 1 1 Y Yang
00004164 Saletti V1, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.(2009) - - RTT - 1 1 Y Yang
00004165 Elia M1, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.(2008) - - RTT - 1 1 Y Yang
00004166 Elia M1, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.(2008) - - RTT - 1 1 Y Yang
00004167 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004168 Nemos C1, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.(2009) - - RTT - 1 1 Y Yang
00004169 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004170 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004171 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004172 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004173 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004174 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004175 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004176 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004177 Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) - - RTT - 1 1 Y Yang
00004178 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004179 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004180 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004181 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004182 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004183 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004184 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004185 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004186 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004187 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004188 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004189 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004190 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004191 "Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R(2005) - - RTT - 1 1 Y Yang
00004192 - - - RTT - 1 1 Y Yang
00004193 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004194 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004195 Sprovieri T1, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.(2009) - - RTT - 1 1 Y Yang
00004196 Sartori S1, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.(2009) - - RTT - 1 1 Y Yang
00004197 Psoni S1, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S.(2010) - - RTT - 1 1 Y Yang
00004198 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004199 Russo S1, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L.(2009) - - RTT - 1 1 Y Yang
00004267 Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013) Indian - RTT - 1 1 Y Yang
00004268 Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013) Indian - RTT - 1 1 Y Yang
00004269 Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013) Indian - RTT - 1 1 Y Yang
00004270 Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013) Indian - RTT - 1 1 Y Yang
00004271 Das DK1, Mehta B, Menon SR, Raha S, Udani V.(2013) Indian - RTT - 1 1 Y Yang
00004272 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004273 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004274 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004275 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004276 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004277 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004278 Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) Chinese - RTT - 1 1 Y Yang
00004299 "Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7(2015) - - RTT - 1 1 Y Yang
00004300 "Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7(2015) - - RTT - 1 1 Y Yang
00005848 Christianto A et al. (2016) - - RTT - 1 1 XY Liu
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