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Hannah Verdin

Showing results (1-10 of 36) with videos related to

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Hormone Research in Paediatrics|January 18, 2012
FOXL2 impairment in human diseaseHannah Verdin, Elfride De Baere
Best Practice & Research. Clinical Endocrinology & Metabolism|April 22, 2019
Update on the genetics of differences of sex development (DSD)Dorien Baetens, Hannah Verdin, Elfride De Baere, et al.
European Journal of Medical Genetics|September 7, 2014
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)Reena Gulati, Hannah Verdin, Dhanapathi Halanaik, et al.
Molecular Vision|February 8, 2012
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type IIAlireza Haghighi, Hannah Verdin, Hamidreza Haghighi-Kakhki, et al.
Clinical Dysmorphology|September 22, 2011
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delayStacy Zahanova, Brandon Meaney, Beata Łabieniec, et al.
European Journal of Medical Genetics|March 23, 2020
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicismElise Pozza, Hannah Verdin, Hilde Deconinck, et al.
Journal of Genetic Counseling|April 13, 2024
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couplesAriane J A G Van Tongerloo, Hannah Verdin, Wouter Steyaert, et al.
Journal of Neurology|September 9, 2023
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)Astrid Van den Broecke, Alexander Decruyenaere, Nika Schuermans, et al.
Orphanet Journal of Rare Diseases|February 22, 2014
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristicsHannah Verdin, Elena A Sorokina, Françoise Meire, et al.
Ophthalmic Genetics|May 21, 2021
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in <i>ASPH</i>Tom Van Hoorde, Fanny Nerinckx, Elke Kreps, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Hormone Research in Paediatrics|January 18, 2012
FOXL2 impairment in human diseaseHannah Verdin, Elfride De Baere
Best Practice & Research. Clinical Endocrinology & Metabolism|April 22, 2019
Update on the genetics of differences of sex development (DSD)Dorien Baetens, Hannah Verdin, Elfride De Baere, et al.
European Journal of Medical Genetics|September 7, 2014
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)Reena Gulati, Hannah Verdin, Dhanapathi Halanaik, et al.
Molecular Vision|February 8, 2012
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type IIAlireza Haghighi, Hannah Verdin, Hamidreza Haghighi-Kakhki, et al.
Clinical Dysmorphology|September 22, 2011
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delayStacy Zahanova, Brandon Meaney, Beata Łabieniec, et al.
European Journal of Medical Genetics|March 23, 2020
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicismElise Pozza, Hannah Verdin, Hilde Deconinck, et al.
Journal of Genetic Counseling|April 13, 2024
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couplesAriane J A G Van Tongerloo, Hannah Verdin, Wouter Steyaert, et al.
Journal of Neurology|September 9, 2023
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)Astrid Van den Broecke, Alexander Decruyenaere, Nika Schuermans, et al.
Orphanet Journal of Rare Diseases|February 22, 2014
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristicsHannah Verdin, Elena A Sorokina, Françoise Meire, et al.
Ophthalmic Genetics|May 21, 2021
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in <i>ASPH</i>Tom Van Hoorde, Fanny Nerinckx, Elke Kreps, et al.
Pageof 4