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Adeline K Nicholas

Showing results (1-10 of 22) with videos related to

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Hormone Research in Paediatrics|November 11, 2019
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary DysfunctionRathi Prasad, Adeline K Nicholas, Nadia Schoenmakers, et al.
Frontiers in Endocrinology|August 9, 2020
Genetics of Gland-<i>in-situ</i> or Hypoplastic Congenital Hypothyroidism in MacedoniaNikolina Zdraveska, Mirjana Kocova, Adeline K Nicholas, et al.
Journal of Medical Genetics|August 4, 2010
Critical consequences of finding three pathogenic mutations in an individual with recessive diseaseSally Halsall, Adeline K Nicholas, Gemma Thornton, et al.
Journal of Clinical Research in Pediatric Endocrinology|April 9, 2021
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean InfantEve Stern, Nadia Schoenmakers, Adeline K. Nicholas, et al.
Endocrinology, Diabetes & Metabolism Case Reports|June 17, 2017
Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutationPradeep Vasudevan, Corrina Powell, Adeline K Nicholas, et al.
Thyroid : Official Journal of the American Thyroid Association|November 22, 2021
Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital HypothyroidismHarsh Durgia, Adeline K Nicholas, Erik Schoenmakers, et al.
Ebiomedicine|July 21, 2022
Cervical cell lift: A novel triage method for the spatial mapping and grading of precancerous cervical lesionsAslam Shiraz, Nagayasu Egawa, Daniël M Pelt, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 22, 2015
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlationsEdward C Emery, Abdella M Habib, James J Cox, et al.
Thyroid : Official Journal of the American Thyroid Association|May 3, 2019
<i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United KingdomCatherine Peters, Adeline K Nicholas, Erik Schoenmakers, et al.
Journal of Medical Genetics|October 28, 2010
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathyOfélia P Carvalho, Gemma K Thornton, Joseph Hertecant, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Hormone Research in Paediatrics|November 11, 2019
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary DysfunctionRathi Prasad, Adeline K Nicholas, Nadia Schoenmakers, et al.
Frontiers in Endocrinology|August 9, 2020
Genetics of Gland-<i>in-situ</i> or Hypoplastic Congenital Hypothyroidism in MacedoniaNikolina Zdraveska, Mirjana Kocova, Adeline K Nicholas, et al.
Journal of Medical Genetics|August 4, 2010
Critical consequences of finding three pathogenic mutations in an individual with recessive diseaseSally Halsall, Adeline K Nicholas, Gemma Thornton, et al.
Journal of Clinical Research in Pediatric Endocrinology|April 9, 2021
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean InfantEve Stern, Nadia Schoenmakers, Adeline K. Nicholas, et al.
Endocrinology, Diabetes & Metabolism Case Reports|June 17, 2017
Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutationPradeep Vasudevan, Corrina Powell, Adeline K Nicholas, et al.
Thyroid : Official Journal of the American Thyroid Association|November 22, 2021
Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital HypothyroidismHarsh Durgia, Adeline K Nicholas, Erik Schoenmakers, et al.
Ebiomedicine|July 21, 2022
Cervical cell lift: A novel triage method for the spatial mapping and grading of precancerous cervical lesionsAslam Shiraz, Nagayasu Egawa, Daniël M Pelt, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|May 22, 2015
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlationsEdward C Emery, Abdella M Habib, James J Cox, et al.
Thyroid : Official Journal of the American Thyroid Association|May 3, 2019
<i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United KingdomCatherine Peters, Adeline K Nicholas, Erik Schoenmakers, et al.
Journal of Medical Genetics|October 28, 2010
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathyOfélia P Carvalho, Gemma K Thornton, Joseph Hertecant, et al.
Pageof 3