Results 161 to 170 of about 361,800 (263)

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family. [PDF]

BMJ Neurol Open
El Mouhi H, Elmakhzen B, Bouyahyaoui A, Hida M, Ouldim K, Bouguenouch L, Chaouki S.   +6 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Women's Politics of Solidarity in El Salvador: Familial Love, Carceral Peace, and Patriarchy. [PDF]

Crit Criminol
Velásquez Estrada RE.
europepmc   +1 more source

Cousin [PDF]

, 2020
openaire   +1 more source

Two case reports of idiopathic prenatal closure of the ductus arteriosus complicated at birth by severe pulmonary hypertension successfully treated without intubation. [PDF]

Transl Pediatr
Mwizerwa L, Joye R, Cousin VL, Malaspinas I, Bouhabib M, Lucron H, Beghetti M, Wacker J.   +7 more
europepmc   +1 more source

Positive and Negative Experiences of Caring Among Adolescent Young Carers

Children &Society, EarlyView.
ABSTRACT Research has highlighted that adolescent young carers (AYCs) are in a vulnerable position due to their caring responsibilities being combined with the challenges of adolescence. However, caring among adolescents does not have to be a solely negative experience and positive experiences of caring can co‐exist.
Miriam Svensson, Kevin J. McKee, Francesco Barbabella, Lennart Magnusson, Rosita Brolin, Elizabeth Hanson   +5 more
wiley   +1 more source

Amyloid Alpha: The Neglected Cousin of Amyloid Beta. [PDF]

Chembiochem
Raskatov JA.
europepmc   +1 more source

Seizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives

Developmental Medicine &Child Neurology, EarlyView.
Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. Abstract Aim To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure ...
Angel Aledo‐Serrano, José Ángel Aibar, Domingo Palacios‐Ceña, Maria Salcedo‐Perez‐Juana, Maria Palacios‐Ceña, Simona Giorgi, Manuel Lorenzo‐Dieguez, Sanjay M Sisodiya, Cristina García‐Bravo   +8 more
wiley   +1 more source

Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant. [PDF]

Cureus
Isayev C, Haciyeva I, Hasanov E, Hasanova F, Samadov P.   +4 more
europepmc   +1 more source

Perspectives of young people with neuromotor disabilities on shared digital portals in paediatric rehabilitation: A descriptive–interpretive qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Graphical abstract illustrating the four key themes identified in this study. From the perspective of young people with neuromotor disabilities, shared digital portals could improve interprofessional coordination and promote competence, autonomy, and relatedness in rehabilitation care.
Marietta Kersalé, Diane Paquin, Sylvain Brochard, Christèle Kandalaft, Emeline Edern, Marie‐Pascale Pomey, Quan Nha Hong, Christelle Pons   +7 more
wiley   +1 more source