[图书][B] Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach

CP Panteliadis, R Benjamin, C Hagel - 2022 - books.google.com
… All chapters have been revised and updated, evidencebased … strategies associated with
these challenging disorders. … malformations of hereditary hemorrhagic telangiectasia result in …

Rare bleeding disorders: Advances in management

A Casini, H Al‐Samkari, C Hayward, F Peyvandi - Haemophilia, 2024 - Wiley Online Library
… , an accurate diagnosis strategy is mandatory. As indicated in … of reduced antithrombin activity
in different RBDs, showed that … management of hereditary hemorrhagic telangiectasia. Ann …

Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia

F Zhou, X Zhao, X Liu, Y Liu, F Ma… - Pulmonary …, 2020 - journals.sagepub.com
… /Cas9 genetic correction … hereditary hemorrhagic telangiectasia patient peripheral blood
mononuclear cells and autologous correction on mutant hereditary hemorrhagic telangiectasia-…

Initial Assessment of the “Head and Neck” Patient

I Basu, M Perry - Diseases and Injuries to the Head, Face and Neck: A …, 2021 - Springer
… The assessment of rashes and ulcers is discussed elsewhere in this book (see chapters on
the mouth and skin). Rashes are mostly confined to the skin, but can occur within the mouth …

Rhinology

K Phillips, K Fedder, ZM Patel - … : High Yield Review for the Otolaryngology …, 2023 - Springer
A strong understanding of sinonasal anatomy and physiology allows the otolaryngologist to
fully evaluate and manage rhinologic disease, whether medically or surgically, and often in …

The most common clinical presentation of skin cancer is a lesion on the skin that bleeds intermittently. Patients

JA Zitelli, GA Marrazzo - Decision Making in Otolaryngology; …, 2019 - books.google.com
… the clinical staging of lung cancer is not uniformly accurate, and findings during lymph node
dissection may upgrade a clinically … A variety of strategies are taught, and now most medical

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

ME Bernabéu-Herrero, D Patel, A Bielowka, JY Zhu… - Blood, 2024 - ashpublications.org
… To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT),
we subcategorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 …

[HTML][HTML] Ocular manifestations in patients with sensorineural hearing loss

HA Zaheer, DC Parameswarappa… - … Ophthalmic & Vision …, 2022 - ncbi.nlm.nih.gov
… Additionally, this review aims to include an update on the … review was created to provide
clinicians a summary of the … while also suggesting intervention strategies that may lead to better …

Beth L. Roman, 1 Douglas A. Marchuk, 2 Scott O. Trerotola, 3

RE Pyeritz - … and Practice of Medical Genetics and Genomics …, 2019 - books.google.com
… understanding of hereditary hemorrhagic telangiectasia (HHT… in part, to different mutations
in different genes that can affect … and how the pedigree is updated and stored in an accessible …

[图书][B] The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology E-Book

NJ Friedman, PK Kaiser, R Pineda II - 2019 - books.google.com
… the Publisher’s permissions policies and our arrangements with … With each update, we
strive to improve on the previous version. … Orbital or otolaryngology consultation is indicated for …