Results 121 to 130 of about 1,053 (245)

Ear Reconstruction [PDF]

Seminars in Plastic Surgery, 2017
Tuan A, Truong, Renata S, Maricevich
openaire   +2 more sources

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

3D Visualization Technology for Cardiac Transplant Planning in a Patient With Failing Fontan Circulation. [PDF]

JACC Case Rep
Ganigara M, Osea K, Nguyen AB, Hibino N, Earing MG, Pophal SG.   +5 more
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Earing Prediction of AA5754-H111 (Al-Alloy) with Linear Transformation-Based Anisotropic Drucker Yield Function under Non-Associated Flow Rule (Non-AFR). [PDF]

Materials (Basel)
Gao X, Zhang Z, Xu Z, Wan X, Wang S, Mubashir NM.   +5 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

Surfer's ear.

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

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

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

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