| scholarly article | Q13442814 |
| P356 | DOI | 10.1111/CGE.12821 |
| P698 | PubMed publication ID | 27311568 |
| P50 | author | Christian Gilissen | Q39793064 |
| Teppo Varilo | Q46185263 | ||
| Irma Järvelä | Q54155986 | ||
| Jukka S Moilanen | Q55711131 | ||
| Koen Van Gassen | Q56481396 | ||
| Michele Pinelli | Q57161346 | ||
| P2093 | author name string | S Raza | |
| K Wu | |||
| G Scala | |||
| A Mustonen | |||
| S Cocozza | |||
| R Roepman | |||
| A K Philips | |||
| T Määttä | |||
| C I de Bie | |||
| H H Arts | |||
| P2860 | cites work | Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice | Q24338349 |
| Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions | Q26752890 | ||
| Specific expressions of Fyn and Lyn, lymphocyte antigen receptor-associated tyrosine kinases, in the central nervous system | Q28213503 | ||
| In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation | Q28573830 | ||
| Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome | Q34239845 | ||
| Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing | Q35898892 | ||
| Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. | Q36473459 | ||
| Genetic and epigenetic networks in intellectual disabilities. | Q37930670 | ||
| Making headway with genetic diagnostics of intellectual disabilities | Q38124929 | ||
| Genetics of recessive cognitive disorders | Q38157252 | ||
| Genetic studies in intellectual disability and related disorders | Q38616789 | ||
| Identifying genes responsible for intellectual disability in consanguineous families | Q39154217 | ||
| The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era. | Q42611572 | ||
| Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. | Q46243844 | ||
| Deep sequencing reveals 50 novel genes for recessive cognitive disorders | Q48884202 | ||
| Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families | Q57161336 | ||
| P433 | issue | 1 | |
| P304 | page(s) | 100-105 | |
| P577 | publication date | 2016-07-12 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Identification of C12orf4 as a gene for autosomal recessive intellectual disability | |
| P478 | volume | 91 |
| Q64076607 | A novel conserved family of Macro-like domains-putative new players in ADP-ribosylation signaling |
| Q92114424 | A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype |
| Q37099823 | Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree |
| Q42208087 | GeneHancer: genome-wide integration of enhancers and target genes in GeneCards |
| Q47751690 | Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families |
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