Effects of the mutation of selected genes of cotton leaf curl Kokhran virus on infectivity, symptoms and the maintenance of cotton leaf curl Multan betasatellite.

Συγγραφείς: Iqbal, Z.

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/107719
https://doi.org/10.1016/j.virusres.2012.07.016

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Συγγραφείς: Rainger, J.

Θέματα: NCEBP 12: Human Reproduction., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/97086
https://repository.ubn.ru.nl//bitstream/handle/2066/97086/97086.pdf

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.

Συγγραφείς: Willemsen, M.H.

Θέματα: IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/97930

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

Συγγραφείς: Nillesen, W.M.

Θέματα: IGMD 3: Genomic disorders and inherited multi-system disorders., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/95713
https://doi.org/10.1002/humu.21523

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.

Συγγραφείς: Overlack, N.

Θέματα: IGMD 4: Glycostation disorders., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/96822
https://doi.org/10.1016/j.bbamcr.2011.05.015

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Συγγραφείς: Hildebrand, M.S.

Θέματα: IGMD 4: Glycostation disorders., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/96779
https://doi.org/10.1002/humu.21512

Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations.

Συγγραφείς: Weegerink, N.J.D.

Θέματα: DCN 1: Perception and Action., IGMD 3: Genomic disorders and inherited multi-system disorders., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease DCN 3: Neuroinformatics., NCMLS 7: Chemical and physical biology.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/97939
https://doi.org/10.1007/s10162-011-0282-3

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

Συγγραφείς: Ouweland, A.M. van den

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/97712
https://doi.org/10.1038/ejhg.2010.156

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Συγγραφείς: Sambuughin, N.

Θέματα: DCN 2: Functional Neurogenomics., DCN 2: Functional Neurogenomics IGMD 9: Renal disorder., DCN 2: Functional Neurogenomics NCEBP 10: Human Movement & Fatigue., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1016/j.ajhg.2010.10.020
http://hdl.handle.net/2066/97835

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

Συγγραφείς: Schraders, M.

Θέματα: DCN 1: Perception and Action., IGMD 3: Genomic disorders and inherited multi-system disorders., IGMD 4: Glycostation disorders., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease DCN 3: Neuroinformatics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1016/j.ajhg.2011.04.012
http://hdl.handle.net/2066/97159

Differential altered stability and transcriptional activity of DeltaNp63 mutants in distinct ectodermal dysplasias.

Συγγραφείς: Browne, G.

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1242/jcs.079327
http://hdl.handle.net/2066/95808
https://repository.ubn.ru.nl//bitstream/handle/2066/95808/95808.pdf

Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.

Συγγραφείς: Verhoeven, W.M.A.

Θέματα: DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1002/ajmg.a.34186
http://hdl.handle.net/2066/96044

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Συγγραφείς: Khan, M.I.

Θέματα: IGMD 4: Glycostation disorders., NCMLS 6: Genetics and epigenetic pathways of disease., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders., NCEBP 2: Evaluation of complex medical interventions IGMD 3: Genomic disorders and inherited multi-system disorders.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1016/j.ophtha.2010.10.047
http://hdl.handle.net/2066/96684

Homozygosity mapping in outbred families with mental retardation.

Συγγραφείς: Schuurs-Hoeijmakers, J.H.M.

Θέματα: DCN 2: Functional Neurogenomics., IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1038/ejhg.2010.167
http://hdl.handle.net/2066/95962

Non cell autonomous function for p63 is essential for cardiogenesis.

Συγγραφείς: Medawar, A.

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1002/stem.723
http://hdl.handle.net/2066/97162
https://repository.ubn.ru.nl//bitstream/handle/2066/97162/97162.pdf

TAp63 is important for cardiac differentiation of embryonic stem cells and heart development.

Συγγραφείς: Rouleau, M.

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/98388
https://doi.org/10.1002/stem.723
https://repository.ubn.ru.nl//bitstream/handle/2066/98388/98388.pdf

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Συγγραφείς: Morava, E.

Θέματα: DCN 1: Perception and Action IGMD 4: Glycostation disorders., DCN 3: Neuroinformatics., IGMD 3: Genomic disorders and inherited multi-system disorders., IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics., IGMD 4: Glycostation disorders., IGMD 6: Hormonal regulation., NCMLS 5: Membrane transport and intracellular motility IGMD 9: Renal disorder., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/96664
https://doi.org/10.1210/jc.2010-1539

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.

Συγγραφείς: Willemsen, M.H.

Θέματα: DCN 2: Functional Neurogenomics., IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics., Molecular Animal Physiology., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics., NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: https://doi.org/10.1136/jmedgenet-2011-100294
http://hdl.handle.net/2066/96723
https://repository.ubn.ru.nl//bitstream/handle/2066/96723/96723.pdf

Genetic and epigenetic networks in intellectual disabilities.

Συγγραφείς: Bokhoven, H. van

Θέματα: NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/96952
https://doi.org/10.1146/annurev-genet-110410-132512

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

Συγγραφείς: Basit, S.

Θέματα: IGMD 3: Genomic disorders and inherited multi-system disorders NCEBP 1: Molecular epidemiology., NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics.

Όροι ευρετηρίου: Article / Letter to editor.

Σύνδεσμος: http://hdl.handle.net/2066/95581
https://doi.org/10.1016/j.arcmed.2011.04.006