Original language | English |
---|---|
Pages (from-to) | 1195-1203 |
Number of pages | 9 |
Journal | American Journal of Human Genetics |
Volume | 102 |
Issue number | 6 |
DOIs | |
Publication status | Published - 7 Jun 2018 |
Keywords
- TOUSLED-LIKE KINASES
- GENES
- MUTATIONS
- Cell Line
- Translocation, Genetic
- Genetic Association Studies
- Humans
- Protein Kinases/genetics
- Child, Preschool
- Infant
- Male
- Loss of Function Mutation/genetics
- RNA, Messenger/genetics
- Young Adult
- Inheritance Patterns/genetics
- Base Sequence
- Adolescent
- Facies
- Adult
- Female
- Child
- Neurodevelopmental Disorders/genetics
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De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. / Reijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Ludecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Stegmann, Alexander P. A.; Brunner, Han G.; Deciphering Dev Disorders Study; Wilkie, Andrew O.M.
In: American Journal of Human Genetics, Vol. 102, No. 6, 07.06.2018, p. 1195-1203.Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - De Novo and Inherited Loss-of-Function Variants in TLK2
T2 - Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
AU - Reijnders, Margot R. F.
AU - Miller, Kerry A.
AU - Alvi, Mohsan
AU - Goos, Jacqueline A. C.
AU - Lees, Melissa M.
AU - de Burca, Anna
AU - Henderson, Alex
AU - Kraus, Alison
AU - Mikat, Barbara
AU - de Vries, Bert B. A.
AU - Isidor, Bertrand
AU - Kerr, Bronwyn
AU - Marcelis, Carlo
AU - Schluth-Bolard, Caroline
AU - Deshpande, Charu
AU - Ruivenkamp, Claudia A. L.
AU - Wieczorek, Dagmar
AU - Baralle, Diana
AU - Blair, Edward M.
AU - Engels, Hartmut
AU - Ludecke, Hermann-Josef
AU - Eason, Jacqueline
AU - Santen, Gijs W. E.
AU - Clayton-Smith, Jill
AU - Chandler, Kate
AU - Tatton-Brown, Katrina
AU - Payne, Katelyn
AU - Helbig, Katherine
AU - Radtke, Kelly
AU - Nugent, Kimberly M.
AU - Cremer, Kirsten
AU - Strom, Tim M.
AU - Bird, Lynne M.
AU - Sinnema, Margje
AU - Bitner-Glindzicz, Maria
AU - van Dooren, Marieke F.
AU - Alders, Marielle
AU - Koopmans, Marije
AU - Brick, Lauren
AU - Kozenko, Mariya
AU - Harline, Megan L.
AU - Klaassens, Merel
AU - Steinraths, Michelle
AU - Cooper, Nicola S.
AU - Edery, Patrick
AU - Yap, Patrick
AU - Terhal, Paulien A.
AU - van der Spek, Peter J.
AU - Stegmann, Alexander P. A.
AU - Brunner, Han G.
AU - Deciphering Dev Disorders Study
AU - Wilkie, Andrew O.M.
PY - 2018/6/7
Y1 - 2018/6/7
KW - TOUSLED-LIKE KINASES
KW - GENES
KW - MUTATIONS
KW - Cell Line
KW - Translocation, Genetic
KW - Genetic Association Studies
KW - Humans
KW - Protein Kinases/genetics
KW - Child, Preschool
KW - Infant
KW - Male
KW - Loss of Function Mutation/genetics
KW - RNA, Messenger/genetics
KW - Young Adult
KW - Inheritance Patterns/genetics
KW - Base Sequence
KW - Adolescent
KW - Facies
KW - Adult
KW - Female
KW - Child
KW - Neurodevelopmental Disorders/genetics
U2 - 10.1016/j.ajhg.2018.04.014
DO - 10.1016/j.ajhg.2018.04.014
M3 - Article
VL - 102
SP - 1195
EP - 1203
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -