Results 251 to 260 of about 1,176,885 (307)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking +6 more
wiley +1 more source
Effect of Drive and Emotion on Spontaneous Alternation
, 1959 Shinkuro Iwahara
openalex +2 more sources
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source
Kayika Vedana (Physical Emotion) and Cetasika Vedana (Mental Emotion)
, 1962 Issai Funahashi
openalex +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto +2 more
wiley +1 more source
Emotion and Ego From the Standpoint of Philosophy of Science
, 1963 Hiroshi Saito
openalex +2 more sources
Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult‐centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations ...
Leena Nahata +3 more
wiley +1 more source
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf +2 more
wiley +1 more source