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Mark R Garrelfs

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Cardiology in the Young|January 26, 2019
Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndromeMark R Garrelfs, Esther Hoppenreijs, Ronald B Tanke
Nederlands Tijdschrift Voor Geneeskunde|July 10, 2014
[Primary amenorrhoea and macrocephaly]Mark R Garrelfs, W Peter Vandertop, Hanneke M van Santen
Nederlands Tijdschrift Voor Geneeskunde|October 16, 2015
[A girl with bilateral periorbital edema]Mark R Garrelfs, Jeroen R M Romeijn, Jan W C M Heynens
European Thyroid Journal|February 6, 2025
Newborn screening for central congenital hypothyroidism: past, present and futureMark R Garrelfs, Christiaan F Mooij, Anita Boelen, et al.
European Journal of Endocrinology|May 29, 2026
Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidismMark R Garrelfs, Peter Lauffer, Jacquelien J Hillebrand, et al.
Thyroid : Official Journal of the American Thyroid Association|March 2, 2023
Further Delineation of Central Congenital Hypothyroidism due to Variants in <i>TBL1X</i> and <i>IRS4</i>Peter Lauffer, Jolanda C Naafs, Hennie Bikker, et al.
Thyroid : Official Journal of the American Thyroid Association|August 12, 2021
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-βPeter Lauffer, Hennie Bikker, Mark R Garrelfs, et al.
Pediatric Neurology|September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch CohortMark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
Clinical Journal of the American Society of Nephrology : CJASN|August 29, 2015
Eculizumab in Pediatric Dense Deposit DiseaseMichiel J S Oosterveld, Mark R Garrelfs, Bernd Hoppe, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 18, 2022
Identification of a Novel <i>CYP11B2</i> Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyMark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Cardiology in the Young|January 26, 2019
Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndromeMark R Garrelfs, Esther Hoppenreijs, Ronald B Tanke
Nederlands Tijdschrift Voor Geneeskunde|July 10, 2014
[Primary amenorrhoea and macrocephaly]Mark R Garrelfs, W Peter Vandertop, Hanneke M van Santen
Nederlands Tijdschrift Voor Geneeskunde|October 16, 2015
[A girl with bilateral periorbital edema]Mark R Garrelfs, Jeroen R M Romeijn, Jan W C M Heynens
European Thyroid Journal|February 6, 2025
Newborn screening for central congenital hypothyroidism: past, present and futureMark R Garrelfs, Christiaan F Mooij, Anita Boelen, et al.
European Journal of Endocrinology|May 29, 2026
Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidismMark R Garrelfs, Peter Lauffer, Jacquelien J Hillebrand, et al.
Thyroid : Official Journal of the American Thyroid Association|March 2, 2023
Further Delineation of Central Congenital Hypothyroidism due to Variants in <i>TBL1X</i> and <i>IRS4</i>Peter Lauffer, Jolanda C Naafs, Hennie Bikker, et al.
Thyroid : Official Journal of the American Thyroid Association|August 12, 2021
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-βPeter Lauffer, Hennie Bikker, Mark R Garrelfs, et al.
Pediatric Neurology|September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch CohortMark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
Clinical Journal of the American Society of Nephrology : CJASN|August 29, 2015
Eculizumab in Pediatric Dense Deposit DiseaseMichiel J S Oosterveld, Mark R Garrelfs, Bernd Hoppe, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 18, 2022
Identification of a Novel <i>CYP11B2</i> Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencyMark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, et al.
Pageof 2