Results 151 to 160 of about 181,510 (310)

(2.6) REPLIES TO CORY, EL-BIZRI, MOU AND PESSIN [PDF]

, 2012
Azadpur, Mohammad
core   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Front Line Leadership in Organisations for Persons With Intellectual and Developmental Disabilities: A Systematic Review. [PDF]

J Appl Res Intellect Disabil
Fajardo-Castro LV, Jalili S, Martínez-Tur V.   +2 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

Digital Pathways to Family Bonds: Exploring WhatsApp Video Calls Adoption by Older Adults With Intellectual Disability in Out-of-Home Residence. [PDF]

J Appl Res Intellect Disabil
Shpigelman CN, Isaacson M, Cohen-Nudelman A.   +2 more
europepmc   +1 more source

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source

Communicating to the Intellect, Heart, and Person: A Model Describing Participants' Experience of Goals of Care Discussions Conducted During Acute Inpatient Care. [PDF]

Palliat Med Rep
Lee JS, Fu KJXY, Wiryasaputra L, Lim CZQ, Patinadan PV, Ong JYJ, Ho AHY, Yung TSH.   +7 more
europepmc   +1 more source

Averroes\u27 Philosophical Conception of Separate Intellect and God [PDF]

, 2011
Taylor, Richard C
core   +1 more source

Digital psychotherapeutic interventions to reduce dermatological symptom burden: Development and testing of MindMySkin. [PDF]

JAAD Int
Chua JY, Long V, Yeo PM, Ding J, Dua J, Chandran NS, Lim Q, See Tow HX, Sim W, Chong WI, Suendermann O, De Araujo DP, Valderas JM, Phan P, Hsu KJ, Choi E.   +15 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source