Results 171 to 180 of about 42,366 (259)

Widespread central nervous system hemangiomatosis in a donkey. [PDF]

J Vet Diagn Invest
Mendes RE, Summers BA, Laovechprasit W, Rissi DR.   +3 more
europepmc   +1 more source

OriGrasp: A Multifunctional Origami‐Inspired Instrument for Delicate Manipulation in Abdominal Surgery

Advanced Intelligent Systems, EarlyView.
This paper introduces an origami‐inspired, lightweight, reconfigurable instrument for robot‐assisted minimally invasive surgery. Its foldable design enables tiny access, tunable compliance, and multifunctionality, serving as a tool introducer or deformable grasper that safely manipulates delicate bowel tissue.
Lorenzo Mocellin, Niccolò Pagliarani, Giulia Gamberini, Gastone Ciuti, Matteo Cianchetti, Arianna Menciassi   +5 more
wiley   +1 more source

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]

Biomedicines
Hu J, Xu X, Jiang P, Huang R, Yuan J, Lu L, Han J.   +6 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Temporal behavior of proportional mortality of fetal deaths according to underlying cause, 2011-2020. [PDF]

Rev Esc Enferm USP
Soares de Barros JR, Parenti ABH, Carvalheira APP, Ferrari AP, Duarte MTC, Parada CMGL.   +5 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

When brain calcifications are not benign: A calcified metastasis case and literature review. [PDF]

Radiol Case Rep
Ibelkouchene O, Bakkari AE, Abourak C, Mernissi M, Laamrani FZ, Omor Y, Latib R, Amalik S.   +7 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

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report. [PDF]

Case Rep Pediatr
Saul R, David M, Frasch J, Sanchez-Lara PA, Schweiger BM.   +4 more
europepmc   +1 more source