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Louise S Bicknell

Showing results (1-10 of 48) with videos related to

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European Journal of Human Genetics : EJHG|September 11, 2023
The molecular genetics of nELAVL in brain development and diseaseMeghan R Mulligan, Louise S Bicknell
Nature Reviews. Genetics|April 6, 2025
The genetic basis of human heightLouise S Bicknell, Joel N Hirschhorn, Ravi Savarirayan
G3 (Bethesda, Md.)|August 17, 2025
Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defectsCaroline W Beck, Matthew Reily-Bell, Louise S Bicknell
European Journal of Human Genetics : EJHG|July 25, 2022
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndromeShannon Carter, Bridget J Fellows, Kate Gibson, et al.
European Journal of Human Genetics : EJHG|April 14, 2023
The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeEmily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
American Journal of Medical Genetics. Part A|December 18, 2020
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variantsKaren M Knapp, Jennie Murray, I Karen Temple, et al.
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.
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.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|September 11, 2023
The molecular genetics of nELAVL in brain development and diseaseMeghan R Mulligan, Louise S Bicknell
Nature Reviews. Genetics|April 6, 2025
The genetic basis of human heightLouise S Bicknell, Joel N Hirschhorn, Ravi Savarirayan
G3 (Bethesda, Md.)|August 17, 2025
Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage and vascular defectsCaroline W Beck, Matthew Reily-Bell, Louise S Bicknell
European Journal of Human Genetics : EJHG|July 25, 2022
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndromeShannon Carter, Bridget J Fellows, Kate Gibson, et al.
European Journal of Human Genetics : EJHG|April 14, 2023
The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeEmily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
American Journal of Medical Genetics. Part A|December 18, 2020
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variantsKaren M Knapp, Jennie Murray, I Karen Temple, et al.
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.
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.
Pageof 5