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S Bicknell

Showing results (11-20 of 58) with videos related to

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European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
Journal of Medical Genetics|January 23, 2023
Histones: coming of age in Mendelian genetic disordersKaren Knapp, Nihar Naik, Sankalita Ray, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Expanding the phenotypic spectrum associated with DPF2: A new case reportKaren M Knapp, Gemma Poke, Danielle Jenkins, et al.
The American Journal of Physiology|January 1, 1997
Polymorphonuclear leukocytes L-selectin expression decreases as they age in circulationS F Van Eeden, S Bicknell, B A Walker, et al.
American Journal of Respiratory Cell and Molecular Biology|January 1, 1994
A non-radioisotopic method for tracing neutrophils in vivo using 5'-bromo-2'-deoxyuridineS Bicknell, S van Eeden, S Hayashi, et al.
European Journal of Cancer (Oxford, England : 1990)|June 1, 1995
Ifosfamide, carboplatin and etoposide for good prognosis small cell lung cancer: are four courses inadequate? West of Scotland Lung Cancer GroupM Q Hatton, J Cassidy, S Bicknell, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
BMC Bioinformatics|June 19, 2013
Quantifying single nucleotide variant detection sensitivity in exome sequencingAlison M Meynert, Louise S Bicknell, Matthew E Hurles, et al.
Respiratory Medicine|May 1, 1990
High dose epirubicin chemotherapy in untreated poorer prognosis small cell lung cancerS W Banham, A F Henderson, S Bicknell, et al.
Clinical Dysmorphology|December 8, 2015
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1Anne B Krøigård, Andrew P Jackson, Louise S Bicknell, et al.
Pageof 6

Showing results (11-20 of 58) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
Journal of Medical Genetics|January 23, 2023
Histones: coming of age in Mendelian genetic disordersKaren Knapp, Nihar Naik, Sankalita Ray, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Expanding the phenotypic spectrum associated with DPF2: A new case reportKaren M Knapp, Gemma Poke, Danielle Jenkins, et al.
The American Journal of Physiology|January 1, 1997
Polymorphonuclear leukocytes L-selectin expression decreases as they age in circulationS F Van Eeden, S Bicknell, B A Walker, et al.
American Journal of Respiratory Cell and Molecular Biology|January 1, 1994
A non-radioisotopic method for tracing neutrophils in vivo using 5'-bromo-2'-deoxyuridineS Bicknell, S van Eeden, S Hayashi, et al.
European Journal of Cancer (Oxford, England : 1990)|June 1, 1995
Ifosfamide, carboplatin and etoposide for good prognosis small cell lung cancer: are four courses inadequate? West of Scotland Lung Cancer GroupM Q Hatton, J Cassidy, S Bicknell, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndromeLouise S Bicknell, James Pitt, Salim Aftimos, et al.
BMC Bioinformatics|June 19, 2013
Quantifying single nucleotide variant detection sensitivity in exome sequencingAlison M Meynert, Louise S Bicknell, Matthew E Hurles, et al.
Respiratory Medicine|May 1, 1990
High dose epirubicin chemotherapy in untreated poorer prognosis small cell lung cancerS W Banham, A F Henderson, S Bicknell, et al.
Clinical Dysmorphology|December 8, 2015
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1Anne B Krøigård, Andrew P Jackson, Louise S Bicknell, et al.
Pageof 6