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Sonja A de Munnik

Showing results (1-10 of 19) with videos related to

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Orphanet Journal of Rare Diseases|September 19, 2015
Meier-Gorlin syndromeSonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, et al.
European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|November 16, 2018
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesisJoline L Saes, Annet Simons, Sonja A de Munnik, et al.
Hormone Research in Paediatrics|July 2, 2024
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 PatientsLauren D Punt, Daniëlle C M van der Kaay, Petra A van Setten, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2020
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case SeriesFerdy S van Geest, Marcel E Meima, Kyra E Stuurman, et al.
Journal of Medical Genetics|April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotypeGea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Elife|October 17, 2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort studyAnne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Orphanet Journal of Rare Diseases|September 19, 2015
Meier-Gorlin syndromeSonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, et al.
European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndromeSonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|November 16, 2018
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesisJoline L Saes, Annet Simons, Sonja A de Munnik, et al.
Hormone Research in Paediatrics|July 2, 2024
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 PatientsLauren D Punt, Daniëlle C M van der Kaay, Petra A van Setten, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2020
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case SeriesFerdy S van Geest, Marcel E Meima, Kyra E Stuurman, et al.
Journal of Medical Genetics|April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotypeGea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Elife|October 17, 2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort studyAnne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, et al.
Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.
Pageof 2