Results 161 to 170 of about 1,132,202 (287)

Rationales for Antibiotic Treatment Versus Direct Surgical Resection in Various Strata of Diabetic Foot Osteomyelitis-Literature Review and Expert Opinions. [PDF]

Antibiotics (Basel)
Gloor I, Faulhaber S, Schöni M, Waibel FWA, Aragón-Sánchez J, Lipsky BA, Farshad M, Uçkay I.   +7 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Improving Activity and Stability of Candida boidinii Formate Dehydrogenase Through Rational Active Site Engineering. [PDF]

Chembiochem
Bickmann M, Rodil A, Deska J.
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Perceptions, challenges, and improvement strategies for reducing intravenous infusion use in hospitalised patients within Chinese medical institutions: a qualitative interview study. [PDF]

BMC Health Serv Res
Zhong X, Huang Y, Wei Q, Chen K, Wang S, Huang Y.   +5 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Reconstructing the professional role of pharmacists in China from the perspective of public value theory: challenges and institutional pathways. [PDF]

J Pharm Policy Pract
Han K, Wu S, Lin F, Nie X, Shi L, Guan X.   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Brazilian Society of Oncologic Surgery Guideline for Bloodless Surgery (Part 1: Preoperative Strategies). [PDF]

J Surg Oncol
Bocanegra RED, Oliveira AF, Carneiro VCG, Ribeiro R, Machado R, Johnson LF, Cesar D, de Almeida RO, Costa MS, Mendes AF, de Jesus Almeida L, de Magalhães TAR, Barreira CESR, Lemos KM, Coimbra FJF, Lyra JSB, de Sousa Fernandes PH, Atalla A, Ramalho NM, Lontra MB, Junior MGA, Simões SR, Chagas LM, de Almeida JR, Vieira VR, Lyra JS, Goncalves AFK, Maciel E, Fonseca VF, Neto AEH, Bahten LCV, Junior AGR, Flores MP, de Jesus YVGS, Monteiro GA, Filho PEP, Neto HFEC, Argolo DVS, de Cascia Santos Torres R, Pinheiro RN.   +39 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source