Results 161 to 170 of about 360,991 (262)

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. [PDF]

JIMD Rep
Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C.   +9 more
europepmc   +1 more source

‘I Felt Brave’: A Mixed‐Methods Study on Participants' Parental Efficacy After Attending a Parent–Child Programme in a Remote Aboriginal Community

Child &Family Social Work, EarlyView.
ABSTRACT Positive parenting and parent–child interaction are keys to children's early life experiences and developmental outcomes. Play to Connect is a short‐term parent–child programme, co‐developed and delivered in partnership with a remote Aboriginal community on the Tiwi Islands in Australia's Northern Territory.
Carolin Stock, Maggie Kerinaiua Punguatji, Aileen Tiparui, Christel van den Boogaard, Carmen Cubillo, Gary Robinson   +5 more
wiley   +1 more source

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population. [PDF]

Int J Mol Sci
Tabassum I, Shafique M, Akhtar MS.
europepmc   +1 more source

Cousin [PDF]

, 2020
openaire   +1 more source

Finding a Suitable Fostering Agency: Swedish Foster Carers' Reflections on Navigating a Mixed Welfare Market

Child &Family Social Work, EarlyView.
ABSTRACT Due to marketization, foster carers in many Western countries can choose between a number of local child welfare authorities (LAs) and independent fostering agencies (IFAs) to be contracted by. Through semi‐structured interviews with foster carers (n = 24), this study examined how foster carers navigate the Swedish foster care market and what ...
Evelina Fridell Lif
wiley   +1 more source

Beyond additive genetic effects: Explaining family resemblance in school performance across millions of pairs of Norwegian relatives. [PDF]

Proc Natl Acad Sci U S A
Eftedal NH, Eilertsen EM, Sunde HF, Kleppestø TH, Ystrom E, Czajkowski NO.   +5 more
europepmc   +1 more source

Decision‐Making in Emergency Foster Care: An Insider Perspective on Current Practices and Possibilities for Change

Child &Family Social Work, EarlyView.
ABSTRACT Emergency foster care is a protection measure for children who are in a situation of abuse and/or neglect—or at imminent risk of it—that requires an assessment to make a decision. In Catalonia (Spain), emergency foster care placements are designed for children aged 0–6 and can last up to a maximum of 6 months.
Rosa Sitjes‐Figueras, Carme Montserrat, Pere Soler‐Masó, Joan Llosada‐Gistau   +3 more
wiley   +1 more source

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant Leukodystrophy. [PDF]

Neurol Genet
Dhamija R, Tobin WO, Cortelli P, Padiath Q, Muthusamy K, Singh Sekhon UD, Singh BJ, Harris D, Billings H, Mamillo K, Appleberry H, Giorgio E, Ratti S, Fogel BL, Gavrilova R, Raininko R, Cousin MA.   +16 more
europepmc   +1 more source

Exercising Agency for a Better Future: Adolescents in Korea's Kinship Care

Child &Family Social Work, EarlyView.
ABSTRACT The literature on adolescents' perspectives on growing up in kinship care is limited. The study aims to explore the lived experiences of adolescents in grandparent kinship care by examining how they respond to adversity, build support and exercise agency. The study recruited 22 grandparent–adolescent pairs in a large Korean city.
Eunju Lee, Choong Rai Nho, Jinjoo Hong, Eun Hye Kim, Jeesoo Jung   +4 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source