| P50 | author | Christopher A. Walsh | Q23135514 |
| | Stefan T Arold | Q37376656 |
| | Maha Zaki | Q43141494 |
| | Ghada M Abdel-Salam | Q47502267 |
| | Katta Mohan Girisha | Q54759621 |
| | Saud Alsahli | Q58750885 |
| | Fahad Al Hazzani | Q64918166 |
| | Afaque A Momin | Q88030969 |
| | Ranad Shaheen | Q90601502 |
| P2093 | author name string | Fowzan S Alkuraya | |
| | Mohammed Zain Seidahmed | |
| | Muddathir Hamad | |
| | Brahim Tabarki | |
| | Mohamed Abouelhoda | |
| | Nisha Patel | |
| | Mohammed Al-Owain | |
| | Fahad A Bashiri | |
| | Mustafa A Salih | |
| | Anas M Alazami | |
| | Elliott Sherr | |
| | Amal Alhashem | |
| | Amal Kentab | |
| | Eissa Faqeih | |
| | Mais Hashem | |
| | Maha Tulbah | |
| | Mona Aglan | |
| | Niema Ibrahim | |
| | Rana Alomar | |
| | Firdous Abdulwahab | |
| | Sateesh Maddirevula | |
| | Tarfa Al-Sheddi | |
| | Samia Temtamy | |
| | Brieana Fregeau | |
| | Jennifer N Partlow | |
| | Eman Alobeid | |
| | Ameen Softah | |
| | Nour Ewida | |
| | Saeed Al Tala | |
| | Ali H Alwadei | |
| | Serdar Şahintürk | |
| | Ghada Otaify | |
| | Samira Sogati | |
| | Salwa Alkhalifi | |
| | Basma Abadel | |
| | Muna Al Saffar | |
| | Saad Ali M Alshahwan | |
| | Zainab Alhumaidi | |
| P2860 | cites work | Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria | Q21202847 |
| | Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society | Q22337000 |
| | CAK-Cyclin-dependent Activating Kinase: a key kinase in cell cycle control and a target for drugs? | Q24301459 |
| | Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins | Q24324506 |
| | A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | Q24570115 |
| | A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases | Q28114951 |
| | A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition | Q28115181 |
| | Mutations in RARS cause hypomyelination | Q28239044 |
| | Novel CENPJ mutation causes Seckel syndrome | Q28284221 |
| | Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia | Q28289730 |
| | Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells | Q28473926 |
| | Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency | Q28613575 |
| | Neuronal abnormalities in microtubule-associated protein 1B mutant mice | Q33553721 |
| | Primary microcephaly: do all roads lead to Rome? | Q33629131 |
| | The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes | Q33885438 |
| | 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase | Q34210330 |
| | A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function | Q36036561 |
| | Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism | Q36105008 |
| | A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. | Q36695708 |
| | Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene | Q37301255 |
| | Congenital microcephaly | Q38210879 |
| | Molecular and cellular basis of autosomal recessive primary microcephaly | Q38303675 |
| | Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. | Q41918292 |
| | Genetic heterogeneity in Pakistani microcephaly families revisited. | Q41921320 |
| | Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing | Q41921978 |
| | Microcephaly: an epidemiologic analysis | Q41921989 |
| | Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases | Q43222521 |
| | Drosophila liprin-alpha and the receptor phosphatase Dlar control synapse morphogenesis | Q43946448 |
| | Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. | Q45342398 |
| | A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. | Q46054804 |
| | Developmental expression of cyclin H and Cdk7 in zebrafish: the essential role of cyclin H during early embryo development | Q48081705 |
| | Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation | Q48312533 |
| | A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. | Q51609994 |
| | A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. | Q52972238 |
| | SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. | Q55058201 |
| | A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33 | Q55880077 |
| | A common mechanism for microcephaly | Q82083066 |
| | The third editor of the Birth Defects Research Journal | Q85888949 |
| P433 | issue | 3 | |
| P921 | main subject | microcephaly | Q431643 |
| P304 | page(s) | 545-552 | |
| P577 | publication date | 2018-09-14 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Genomic and phenotypic delineation of congenital microcephaly | |
| P478 | volume | 21 | |