Results 161 to 170 of about 3,419 (204)

P443: Blepharophimosis-intellectual developmental disorder syndrome: First reported case in Hispanic population

Genetics in Medicine Open
David Rodriguez, Luis Daniel Campos, Marisol Ibarra-Ramirez, Laura Martinez-De Villarreal   +3 more
doaj   +1 more source

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family. [PDF]

BMC Med Genomics
Liu H, Liu X, Chen X, Pu Y, Liu W, Luo Z, Chen A, Zhu H, Xiong F, Zeng L, Wang J, Nie X, Zhu S.   +12 more
europepmc   +1 more source

Foxc1 regulates Pecam-1 Expression in embryonic Endothelial Progenitor Cells [PDF]

, 2008
Lamparter, Mathias
core  

Double-bubble appearance - Screening of microphthalmic socket with orbital ultrasonography.

Oman J Ophthalmol
Shah S, Gotmare N, Ghosh S, Koli O.
europepmc   +1 more source

Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report. [PDF]

Cureus
Salah Alkooheji A, Nicola Kalis N, Koç G, AlAmer S, Arulselvam V.   +4 more
europepmc   +1 more source

Molecular and clinical aspects of histone-related disorders. [PDF]

Hum Genomics
Al Ojaimi M, Banimortada BJ, Alragheb A, Hajir RS, Alves C, Walid D, Raza A, El-Hattab AW.   +7 more
europepmc   +1 more source

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction

Indian Journal of Ophthalmology, 2008
Pandey Pramod, Vats Pankaj, Kaur Navjot, Kulkarni Ajit   +3 more
doaj  

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“Blepharophimosis‐plus” syndromes: Frequency of systemic genetic disorders that also include blepharophimosis

Clinical & Experimental Ophthalmology, 2021
AbstractBackgroundTo determine the frequency of isolated blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis.MethodsRetrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's ...
Daphna Landau Prat, Brian J. Nguyen, Alanna Strong, William R. Katowitz, James A. Katowitz   +4 more
openaire   +2 more sources