about
Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancerCloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporterCharacterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientStructural Characterization of the Bradyzoite Surface Antigen (BSR4) from Toxoplasma gondii, a Unique Addition to the Surface Antigen Glycoprotein 1-related SuperfamilyStructural Characterization of Apical Membrane Antigen 1 (AMA1) from Toxoplasma gondiiStructure of the micronemal protein 2 A/I domain fromToxoplasma gondiiBabesia divergensandNeospora caninumapical membrane antigen 1 structures reveal selectivity and plasticity in apicomplexan parasite host cell invasionMolecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor familyIs there a relationship between Wolfram syndrome carrier status and suicide?Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosityA de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumSNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancerSequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion.Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors.The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulationGenome-wide discovery of human splicing branchpointsThe human mitochondrial transcriptomeLoss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectMutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.Improved definition of the mouse transcriptome via targeted RNA sequencingTargeted RNA sequencing reveals the deep complexity of the human transcriptomeWhole exome sequencing in patients with white matter abnormalities.Apicomplexan parasite adhesins: novel strategies for targeting host cell carbohydrates.Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing.1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Intergenic disease-associated regions are abundant in novel transcripts.X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.Human GALR1 galanin receptor (GALNR1). Map position 18q23.Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.Targeted sequencing for gene discovery and quantification using RNA CaptureSeq.Universal Alternative Splicing of Noncoding Exons.Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics.Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome
P50
Q22004026-CBA2649E-4A0A-479B-9EEB-E4CF63C296D0Q22009138-32167384-45B3-4449-830D-F8B78D708E40Q22010718-6D9A7F78-D3B2-4189-AA20-053AD5D5001EQ24655837-731DC74C-0030-4AF1-8D05-E2926F7440BBQ27653476-EEAE18C8-6648-4B88-9E50-9EBF594F2A49Q27660294-11799169-A062-4BBF-94C6-1A7A4EC98270Q27663868-FD4F2CD9-1CD3-4863-92AA-8FA72311342EQ27675189-AB357857-5AAA-4834-ABBC-4A4CF3C741E2Q28145694-BB0B41FA-ADBC-44CF-8939-612738EF7839Q28211216-D5135438-9EB3-416F-BD05-D043BBDEC3DCQ28272869-E43840B3-E835-41DD-89F2-AFB9E5B2FF0DQ28288876-718AC9D1-863C-42A6-B93A-BC97413ED537Q28308175-2E86AA1F-E10D-4F63-8E05-4A5AF7B07FE5Q34147823-B806863F-9199-467B-A80C-D3805650DFA6Q34184031-E15CE7D5-E70E-4A34-B262-58D108D86BD7Q34342888-F85F3B3D-70E2-44E8-86AA-327B017074B8Q34345106-3CFA31DA-D4FB-402C-B640-5403C154BB4CQ34528277-28AF5122-7522-4E0E-B77D-24D7818F1F1CQ35042993-0A415D98-03F1-419D-AB61-41A1E8A6A93BQ35178219-89A8549B-C962-4D70-86FC-4FA8A0CA82CEQ35266358-308DB6CB-5C4A-47EB-AB96-EBDE5D665A10Q36617573-5C97D63F-BB8C-4AB8-936F-4C9634A2AC59Q36893778-6330C6A2-1879-44E4-95F5-BFD8109708B0Q37009455-9D8172CE-5CEF-4AAA-A6E9-14DEF2CACCE6Q37705319-AB3739CE-6686-4A27-BF23-9BCADA92F532Q37789083-519E580B-1F56-4782-9AAB-F79A547F483AQ38640565-D702B004-C683-4746-8E6F-54591E4CA7FFQ42776319-E804BD10-6A8B-4A1D-A8F9-61945971971FQ44969265-A71D5537-FC34-42E2-AFCA-9E78408AF0A6Q46125040-4BD8D19C-923E-4570-A6DE-ECF86BAA8D6DQ46317492-3E43F795-7668-4F93-858A-967A7530E931Q47101089-9F994867-711A-4AA7-8389-E84B05D8FA4DQ47124322-E185B0D8-00A1-4483-83E5-3587ACDA54B5Q47589625-BB1D4789-B71E-4378-A17B-8878475BD255Q47943895-1A9BE66A-6850-4547-A52F-FBF7316B02D2Q48037213-D6E43FCB-A448-4816-A93F-43A38A92EC91Q48320125-98944A49-87CC-4670-8874-5300D6C590F3Q49359401-7563C586-105E-408A-8E5E-A4A944E3E8CBQ49791292-7AC72D4D-8499-42BE-82FF-996189584BA3Q52162286-F3118CC6-3EE3-46AB-ADCB-39272E081DE8
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Joanna Crawford
@ast
Joanna Crawford
@en
Joanna Crawford
@es
Joanna Crawford
@nl
Joanna Crawford
@sl
type
label
Joanna Crawford
@ast
Joanna Crawford
@en
Joanna Crawford
@es
Joanna Crawford
@nl
Joanna Crawford
@sl
prefLabel
Joanna Crawford
@ast
Joanna Crawford
@en
Joanna Crawford
@es
Joanna Crawford
@nl
Joanna Crawford
@sl
P106
P21
P31
P496
0000-0003-0786-6889