Results 101 to 110 of about 3,419 (204)

Ritka genetikai betegségek klinikai és genetikai diagnosztikájában szerzett tapasztalataink a kelet-magyarországi régióban (2007-2013) [PDF]

, 2017
Balogh, Erzsébet, Balogh, István, Bessenyei, Beáta, Oláh, Éva, P. Szabó, Gabriella, Szakszon, Katalin, Ujfalusi, Anikó   +6 more
core   +1 more source

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core  

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II [PDF]

, 2012
Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF).
De Baere, Elfride, Gohari, Nasrollah Saleh, Haghighi, Alireza, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Verdin, Hannah   +5 more
core   +1 more source

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. [PDF]

BMC Ophthalmol, 2023
Lin ZB, Chen ZJ, Yang H, Ding XR, Li J, Pan AP, Sun HS, Yu AY, Chen SH.   +8 more
europepmc   +1 more source

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. [PDF]

Case Rep Genet, 2023
Bayanbold K, Younger G, Darbro B, Sidhu A.   +3 more
europepmc   +1 more source

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management. [PDF]

BMC Ophthalmol
Al Khathami A, Al Ghamdi AH.
europepmc   +1 more source

Blepharophimosis

, 2016
Craig Hacking, Frank Gaillard, Daniel Bell   +2 more
openaire   +1 more source

Mental retardation with blepharophimosis. [PDF]

Journal of Medical Genetics, 1987
B Say, N Barber
openaire   +1 more source

Single-stage surgery for Blepharophimosis syndrome

Indian Journal of Ophthalmology, 2013
Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin Shah, Nilutparna Deori   +4 more
doaj   +1 more source

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source