Results 111 to 120 of about 409,560 (246)

Computed Tomographic Findings in Canine Otitis Externa. [PDF]

Vet Radiol Ultrasound
Vila Cabaleiro A, Procter TV, Patel A, Schwarz T, Dirrig H, Tan YL.   +5 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Field efficacy of a combination of afoxolaner, moxidectin and pyrantel pamoate against natural infestation with Otodectes cynotis in dogs. [PDF]

Parasite
Tielemans E, Sioutas G, Papadopoulos E.
europepmc   +1 more source

Surfer's ear.

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

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Impact of contralateral sensorineural hearing loss on prognosis in idiopathic sudden sensorineural hearing loss. [PDF]

PLoS One
Xie S, Chen Z, Huang L, Hong Y, Lin C.
europepmc   +1 more source

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

Multifocal Rosai-Dorfman disease with involvement of the pinna

JAAD Case Reports, 2017
Molly B. Hirt, MS, Jordan Heskett, MD, Vindhya Veerula, MD, Simon Warren, MD, Nidhi Avashia-Khemka, MD, Lawrence A. Mark, MD, PhD   +5 more
doaj   +1 more source

Computed Tomographic Grading of Ear Diseases in Guinea Pigs (Cavia porcellus). [PDF]

Vet Radiol Ultrasound
Brennan T, Beauvois M, Pignon C, Coutant T, Muffat-Es-Jacques P, Penel E, Gomes E, Huynh M, Hahn H.   +8 more
europepmc   +1 more source

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