Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Agnes Bloch-Zupan

Showing results (1-10 of 12) with videos related to

Pageof 2
Sort By:
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics|May 30, 2006
Multiple pulp stones and shortened roots of unknown etiologySusan Parekh, Anna Kyriazidou, Agnes Bloch-Zupan, et al.
Orphanet Journal of Rare Diseases|April 6, 2007
Amelogenesis imperfectaPeter J M Crawford, Michael Aldred, Agnes Bloch-Zupan
Plos Genetics|September 22, 2025
Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome modelsJosé Tomás Ahumada Saavedra, Claire Chevalier, Agnes Bloch Zupan, et al.
Frontiers in Physiology|July 5, 2018
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic ReviewJane Hejlesen, Line Underbjerg, Hans Gjørup, et al.
American Journal of Medical Genetics. Part A|June 4, 2020
Characteristic dental pattern with hypodontia and short roots in Fraser syndromeFelix Kunz, Hülya Kayserili, Alina Midro, et al.
Orphanet Journal of Rare Diseases|June 15, 2014
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutationsMuriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2006
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypesFaisal Idrees, Agnes Bloch-Zupan, Samantha L Free, et al.
JAMA Dermatology|March 20, 2024
Orofacial Anomalies in Kindler Epidermolysis BullosaSusanne Krämer, Anna Lena Hillebrecht, Yao Wang, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaDavid A Parry, Alan J Mighell, Walid El-Sayed, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics|May 30, 2006
Multiple pulp stones and shortened roots of unknown etiologySusan Parekh, Anna Kyriazidou, Agnes Bloch-Zupan, et al.
Orphanet Journal of Rare Diseases|April 6, 2007
Amelogenesis imperfectaPeter J M Crawford, Michael Aldred, Agnes Bloch-Zupan
Plos Genetics|September 22, 2025
Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome modelsJosé Tomás Ahumada Saavedra, Claire Chevalier, Agnes Bloch Zupan, et al.
Frontiers in Physiology|July 5, 2018
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic ReviewJane Hejlesen, Line Underbjerg, Hans Gjørup, et al.
American Journal of Medical Genetics. Part A|June 4, 2020
Characteristic dental pattern with hypodontia and short roots in Fraser syndromeFelix Kunz, Hülya Kayserili, Alina Midro, et al.
Orphanet Journal of Rare Diseases|June 15, 2014
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutationsMuriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2006
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypesFaisal Idrees, Agnes Bloch-Zupan, Samantha L Free, et al.
JAMA Dermatology|March 20, 2024
Orofacial Anomalies in Kindler Epidermolysis BullosaSusanne Krämer, Anna Lena Hillebrecht, Yao Wang, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaDavid A Parry, Alan J Mighell, Walid El-Sayed, et al.
Pageof 2