Results 101 to 110 of about 160,253 (303)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

El sistema es antinosotros. Culturas, movimientos y resistencias juveniles [PDF]

, 2015
El sistema es antinosotros. Culturas, movimientos y resistencias juveniles construye una plataforma interpretativa para analizar y reflexionar las expresiones políticas y culturales de los jóvenes en el marco del escenario mundial actual, la cual ...
José Manuel Valenzuela Arce
core  

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Natural history of the critically endangered salamander Ambystoma leorae (Caudata: Ambystomatidae) from the Río Tonatzin, Mexico

Phyllomedusa: Journal of Herpetology, 2017
In Mexico, many species of Ambystoma are endangered, but unfortunately little is known about their natural history and ecology. We report on aspects of the natural history of A.
Julio A. Lemos-Espinal, Geoffrey R. Smith, Aline B. Estrella Zamora, Guillermo WoolrichPiña, Raymundo Montoya Ayala   +4 more
doaj  

Ochrona praw oskarżonego poniżej 18. roku życia na tle nowelizacji Kodeksu postępowania karnego z 14 kwietnia 2023 r.

Acta Iuris Stetinensis
On 14 April 2023 the Sejm adopted the Act amending the act – Code of Criminal Procedure and certain other acts. The need for specific protection of defendants under the age of 18 was noticed by the European Union’s legislature over 10 years ago ...
Marcin Dziadkiewicz, Bartosz Fiłoc
doaj   +1 more source

Interactive effects of temperature and food availability on the growth of Arctica islandica juveniles

, 2017
Shell and tissue growth of Arctica islandica ...
Ballesta-Artero, I. (Irene)
core   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Self‐Assembled Pt(II) Complexes Boost Up Stem Cell Proliferation and Accelerate Metamorphosis in Living Organisms

Angewandte Chemie, EarlyView.
Pt1, an organometallic platinum‐based complex, act as a modulator of redox homeostasis in cnidarians, regulating cellular functions and life‐cycle dynamics. In Nematostella vectensis, it mitigates oxidative stress, strengthens detox systems and accelerates development.
Giuseppina Tommasini, Tania Pecoraro, Anna Lewinska, Maciej Wnuk, Olga Kolodziej, Daniela Intartaglia, Simona Morgera, Alessandro Aliprandi, Giulia Veronesi, Giorgio Facchetti, Isabella Rimoldi, Angela Tino, Claudia Tortiglione, Luisa De Cola   +13 more
wiley   +2 more sources

The Investigation of the Effect of Feeds with Probiotic Additives on Growth and Functional State of Juvenile Steelhead Salmo (Salmo gairdneri)

Fishes
The research on the effect of feed with probiotic additives on the growth and functional state of young steelhead salmon (Salmo gairdneri) is presented in this study.
Elena N. Ponomareva, Marina N. Sorokina, Vadim A. Grigoriev, Mariya S. Mazanko, Vladimir A. Chistyakov, Dmitry V. Rudoy   +5 more
doaj   +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