Results 191 to 200 of about 109,515 (359)

Session 3. Middle ear: Modelling, diagnostics, therapy I – Modelling

, 2017
Ulrich Vorwerk
openalex   +2 more sources

Surfer's ear.

Nippon Jibiinkoka Gakkai Kaiho, 1987
Y, Umeda, M, Akinaga
openaire   +3 more sources

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Pediatric Right Atrial Mass With Pulmonary Embolization. [PDF]

CASE (Phila)
Kandoi K, Ganigara M, Hibino N, Earing MG.   +3 more
europepmc   +1 more source

Effect of Carbon Content on Microstructure, Properties and Texture of Ultra-Thin Hot Rolled Strip Produced by Endless Roll Technology. [PDF]

Materials (Basel), 2021
Tian P, Zhu G, Kang Y.
europepmc   +1 more source

Foxm1 Promotes Differentiation of Neural Progenitors in the Zebrafish Inner Ear

Bruce B. Riley, Maria Ali, James Warren Kutlowski, Jorden N Holland   +3 more
openalex   +1 more source

Methods of Examination in Ear, Nose and Throat

, 1954

openalex   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Combined heart and liver transplant in a patient with failing Fontan and total situs inversus. [PDF]

JTCVS Tech
Dayal A, Ganigara M, Pophal SG, Jeevanandam V, Barth R, Fung J, Te H, Earing M, Nguyen A.   +8 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source