Joubert syndrome: Genotyping a Northern European patient cohort

European Journal of Human Genetics

Volumn 24, Issue 2, 2016, Pages 214-220

  Kroes, Hester Y ^a   Monroe, Glen R ^a   Van Der Zwaag, Bert ^a   Duran, Karen J ^a   De Kovel, Carolien G ^a   Van Roosmalen, Mark J ^a   Harakalova, Magdalena ^a   Nijman, Ies J ^a   Kloosterman, Wigard P ^a   Giles, Rachel H ^a   Knoers, Nine V A M ^a   Van Haaften, Gijs ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AHI1 GENE; ARL13B GENE; ARTICLE; C5ORF42 GENE; CC2D2A GENE; CEP290 GENE; CEP41 GENE; CHILD; CONSANGUINITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IFT172 GENE; INDEL MUTATION; INPPE5 GENE; JOUBERT SYNDROME; KIF7 GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEUROPATHOLOGY; NEXT GENERATION SEQUENCING; NORTHERN EUROPEAN; NPHP1 GENE; OFD1 GENE; PHENOTYPE; POLYDACTYLY; POPULATION RESEARCH; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RPGRIP1L GENE; SCHOOL CHILD; TCTN2 GENE; TCTN3 GENE; TECT1 GENE; TMEM138 GENE; TMEM216 GENE; TMEM231 GENE; TMEM237 GENE; TMEM67 GENE; TTC21B GENE; YOUNG ADULT; ZNF423 GENE; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CEREBELLUM; EYE ABNORMALITIES; GENETIC COUNSELING; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; KIDNEY DISEASES, CYSTIC; RETINA;

AHI1 PROTEIN, HUMAN; B9D1 PROTEIN, HUMAN; C5ORF42 PROTEIN, HUMAN; CC2D2A PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TMEM67 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CEREBELLUM; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; GENETIC COUNSELING; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MEMBRANE PROTEINS; PATHOLOGY, MOLECULAR; PROTEINS; RETINA; YOUNG ADULT;

EID: 84954386835     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.84     Document Type: Article

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