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Clinical Genetics|March 21, 2014
Personalized gene silencing therapeutics for Huntington diseaseC Kay, N H Skotte, A L Southwell, et al.Clinical Genetics|March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1J M van de Kamp, A Errami, M Howidi, et al.Clinical Genetics|October 1, 1991
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretionA C Sewell, C Wern, B F PontzClinical Genetics|March 29, 2008
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson diseaseL Gojová, E Jansová, M Külm, et al.Clinical Genetics|April 9, 2008
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forcesM Fernandes, J M HébertClinical Genetics|March 4, 2008
Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasiaM Shoukier, U Teske, A Weise, et al.Clinical Genetics|April 1, 1991
Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectivelyS Kølvraa, J Koch, N Gregersen, et al.Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.Clinical Genetics|November 11, 2018
Fragile X syndrome and connective tissue dysregulationJulián A Ramírez-Cheyne, Gustavo A Duque, Sebastián Ayala-Zapata, et al.Clinical Genetics|February 24, 2017
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 casesE Ranza, C Huber, N Levin, et al.Pageof 719