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Molecular and Cellular Endocrinology
|
February 16, 2010
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
Carrie Ris-Stalpers, Hennie Bikker
Methods in Molecular Medicine
|
August 26, 2006
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing
Alex V Postma, Zahurul A Bhuiyan, Hennie Bikker
Journal of Molecular Biology
|
August 6, 2013
Mechanistic basis of desmosome-targeted diseases
Caezar Al-Jassar, Hennie Bikker, Michael Overduin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 15, 2015
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects
Boudewijn Bakker, Laura J H Sonneveld, M Claire Woltering, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 17, 2013
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
Vinutha B Shetty, Cathy Kiraly-Borri, Phillipa Lamont, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
August 13, 2011
[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]
Jorieke C Verheul, Carrie Ris-Stalpers, Hennie Bikker, et al.
Journal of Molecular Biology
|
July 16, 2011
The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations
Caezar Al-Jassar, Timothy Knowles, Mark Jeeves, et al.
Thyroid : Official Journal of the American Thyroid Association
|
February 1, 2022
Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in <i>TSHB</i>: A Case Report
Peter Lauffer, Hennie Bikker, Anita Boelen, et al.
Molecular Genetics and Metabolism
|
August 8, 2024
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
Bibiche den Hollander, Hoang Lan Le, Eleonora L Swart, et al.
The Canadian Journal of Cardiology
|
May 13, 2021
Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant
Jantiene C Duvekot, Annette F Baas, Catharina M L Volker-Touw, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 38) with videos related to
Sort By:
Page
of 4
Molecular and Cellular Endocrinology
|
February 16, 2010
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
Carrie Ris-Stalpers, Hennie Bikker
Methods in Molecular Medicine
|
August 26, 2006
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing
Alex V Postma, Zahurul A Bhuiyan, Hennie Bikker
Journal of Molecular Biology
|
August 6, 2013
Mechanistic basis of desmosome-targeted diseases
Caezar Al-Jassar, Hennie Bikker, Michael Overduin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 15, 2015
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects
Boudewijn Bakker, Laura J H Sonneveld, M Claire Woltering, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 17, 2013
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
Vinutha B Shetty, Cathy Kiraly-Borri, Phillipa Lamont, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
August 13, 2011
[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]
Jorieke C Verheul, Carrie Ris-Stalpers, Hennie Bikker, et al.
Journal of Molecular Biology
|
July 16, 2011
The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations
Caezar Al-Jassar, Timothy Knowles, Mark Jeeves, et al.
Thyroid : Official Journal of the American Thyroid Association
|
February 1, 2022
Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in <i>TSHB</i>: A Case Report
Peter Lauffer, Hennie Bikker, Anita Boelen, et al.
Molecular Genetics and Metabolism
|
August 8, 2024
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
Bibiche den Hollander, Hoang Lan Le, Eleonora L Swart, et al.
The Canadian Journal of Cardiology
|
May 13, 2021
Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant
Jantiene C Duvekot, Annette F Baas, Catharina M L Volker-Touw, et al.
Page
of 4