Results 71 to 80 of about 347,816 (272)

Accounting of General Production Expenses in Organizations Performing R&D on Long-Term Contracts

Учёт. Анализ. Аудит
The article presents the results of the research, the aim of which was to study the features and problems of regulations and accounting of general production expenses in organizations performing R&D work (hereinafter-referred to as scientific ...
N. S. Suleymanov
doaj   +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

A Review on the Mechanism Between Different Factors and the Occurrence of Autism and ADHD

Psychology Research and Behavior Management, 2021
Tingting Xi, Jinlin Wu Medical Administration Department, West China Second University Hospital, Sichuan University/West China Women’s and Children’s Hospital, Chengdu, Sichuan Province, People’s Republic of ChinaCorrespondence: Jinlin ...
Xi T, Wu J
doaj  

The ASD Living Biology: from cell proliferation to clinical phenotype. [PDF]

, 2019
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the lay public because of its uncertain origins and striking and unexplained clinical heterogeneity.
Courchesne, Eric, Gazestani, Vahid H, Lewis, Nathan E, Lombardo, Michael V, Pierce, Karen, Pramparo, Tiziano   +5 more
core  

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

Hard to "tune in": neural mechanisms of live face-to-face interaction with high-functioning autistic spectrum disorder [PDF]

, 2012
Persons with autism spectrum disorders (ASD) are known to have difficulty in eye contact (EC). This may make it difficult for their partners during face to face communication with them. To elucidate the neural substrates of live inter-subject interaction
Daisuke N Saito, Hidehiko eOkazawa, Hidehiko eOkazawa, Hidetsugu eKomeda, Hiroki C Tanabe, Hiroki C Tanabe, Hirotaka eKosaka, Hirotaka eKosaka, Hirotaka eKosaka, Keise eIzuma, Keise eIzuma, Makoto eIshitobi, Masamichi J Hayashi, Masamichi J Hayashi, Masao eOmori, Norihiro eSadato, Norihiro eSadato, Takahiko eKoike, Toshio eMunesue, Yuji eWada, Yuji eWada   +20 more
core   +2 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

Quality of life in parents of young adults with ASD : EpiTED cohort [PDF]

, 2017
The impact of ASD on parental QOL was evaluated in the EpiTED cohort study at early adulthood. Two-third of parents of young adults with ASD (66.7%) reported that their QoL was at least moderately altered.
Baghdadli, Amaria, Michelon, Cecile, Rattaz, Cecile, Roeyers, Herbert   +3 more
core   +3 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Prevalence and comorbidities of autism among children referred to the outpatient clinics for neurodevelopmental disorders

The Pan African Medical Journal, 2016
INTRODUCTION: autism spectrum disorders (ASD) is a neurodevelopmental disorder that has been rarely diagnosed in Sub-Saharan Africa. Although a proportion of children do present features of ASD in the Democratic Republic of Congo (DRC), little is known ...
Davin Mbeya Mpaka, Daniel Luwa E-Andjafono Okitundu, Ally Omba Ndjukendi, Adelin Mankubu Nesitu, Sebastien Yabassi Kinsala, Joachim Ebwel Mukau, Valentin Malanda Ngoma, Esperance Kashala-Abotenes, Samuel Ma-Miezi-Mampunza, Annick Vogels, Jeans Steyaert   +10 more
doaj   +1 more source