Results 241 to 250 of about 557,831 (338)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

PUPILLARY REFLEX AT EASE: A new instrument for the demonstration of Pupillary reflex. [PDF]

Indian J Ophthalmol
Fathima A, Shyam P, Gupta S, Ravindran M.   +3 more
europepmc   +1 more source

Die selective Reflexion der Metalle [PDF]

, 1889
H. Rubens
openalex   +1 more source

Philanthropy and Indigenous Initiatives: Insights From Australian Donors

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper draws on a survey and interview data, collected from a group of 180 donors who made monetary gifts to an Australian higher education institution, to better understand what drives individuals and organisations to donate to Indigenous initiatives.
Celina McEwen, Christopher Bajada, Deborah Cotton, Kevin Wallace, David S. Waller   +4 more
wiley   +1 more source

Assessment of vestibulo-ocular reflex function in people with Parkinson's disease: a cross-sectional study in a rehabilitation setting using the video head impulse test. [PDF]

BMJ Open
Ferri N, Casagrande Conti L, Manzari L, Piatti D, De Angelis D, Nocentini U, Tramontano M.   +6 more
europepmc   +1 more source

THE EFFECT OF NICOTINE UPON THE REFLEX ACTION OF SOME CUTANEOUS SENSE ORGANS IN THE FROG

, 1916
Irene Howat
openalex   +2 more sources

Ueber die absoluten Phasenänderungen bei der Reflexion des Lichtes und über die Theorie der Reflexion [PDF]

, 1876
W. Wernicke
openalex   +1 more source

Reflexive semigroups [PDF]

Proceedings of the American Mathematical Society, 1965
Fulp, R. O., Hill, P.
openaire   +1 more source

Culture, Connection and Care: The Role of Institutional Justice Capital for Enhancing the Wellbeing of Aboriginal and Torres Strait Islander Children in Out‐Of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Ensuring that Aboriginal and Torres Strait Islander children removed from their families by child protection services remain connected to their kin, Country and culture is a priority to begin to redress the intergenerational trauma and harm caused by colonisation.
Sharynne Hamilton, Larissa Jones, Millie Penny, Charmaine Pell, Sarah Maslen, Carol Michie, Raewyn Mutch, Melissa O’Donnell, Carrington Shepherd, Brad Farrant   +9 more
wiley   +1 more source

Ultrasound Measurement of Pupillary Dilation Reflex During Induction of General Anesthesia Using Sufentanil: A Randomized Controlled Trial. [PDF]

Med Sci Monit
Xing L, Xie H, Zhou X, Zhu J, Liu H.
europepmc   +1 more source