Results 171 to 180 of about 423,269 (300)

A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal Defect: A Case Report. [PDF]

Am J Case Rep
Martínez-García JJ, Zamudio-García LE, Martínez-Félix M, Angulo-Zamudio UA, Flores-Villaseñor H, Acosta-Smith E, Canizalez-Román A, León-Sicairos N.   +7 more
europepmc   +1 more source

Twin pregnancy of a complete hydatidform mole and a co-existent fetus: A very rare case report [PDF]

, 2013
Besharat, M., Tabandeh, A.
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The echocardiographic diagnosis of pulmonary artery sling combined with complex cardiac malformations: Report of a rare case

Asian Journal of Surgery
Jiaqi Zhang, Caihong Chang, Xiuhua Zhao, Qingtao Wang   +3 more
doaj   +1 more source

Living Newborn Back-To-Back With a Complete Hydatidiform Mole: A Rare Twin Pregnancy Outcome. [PDF]

Case Rep Obstet Gynecol
Abou Chakra R, Arab W, El Kassis N, Nassar M, El Ghoul K, Atallah D.   +5 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Implementation of third-generation digital PCR for non-invasive prenatal diagnosis of sickle cell disease and early detection. Pilot study. [PDF]

Front Med (Lausanne)
Benito SF, Álvarez MG, Martínez MJT, Rubio ML, Barreto RADO, Juanis JA, Siges MJM, Fiérrez EJS, Mateo AG, Recasens V, Nieto JM, Martínez AV, Fernández FAG, Montero ABO, Moreno LG, Gradilla PR, Cuesta CB, Spanish Group of Erythropathology.   +17 more
europepmc   +1 more source

Letters ... To the Editor [PDF]

, 1974
Catholic Physicians\u27 Guild
core   +1 more source

Linacre Institute Paper: Moral and Medical Considerations in the Management of Extrauterine Pregnancy [PDF]

, 1999
Diamond, Eugene F.
core   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source