Results 231 to 240 of about 11,713 (290)

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]

Hum Genomics
AlMarzooqi SK, Bux RI, Joy JA, Islam N, Ben-Omran T, Al-Hashimi AA, Alkowari M, Al-Shafai M.   +7 more
europepmc   +1 more source

The prevalence of congenital malformations and its correlation with consanguineous marriages. [PDF]

Oman Med J, 2010
Tayebi N, Yazdani K, Naghshin N.
europepmc   +1 more source

‘The Heart of the Matter’: Grandparent Childcare in Contemporary Chinese Families

Children &Society, EarlyView.
ABSTRACT Grandparent childcare is an international phenomenon, especially within families with children under 3 years old. China is no exception, as shown by a number of quantitative studies. Less clear is our understanding of the actual childcare arrangements involved and how these are negotiated and sustained through the intergenerational ...
Jiatong Ling, Lorna Montgomery, John Pinkerton   +2 more
wiley   +1 more source

Exploring the role of consanguinity in thalassemia prevalence in Pakistan: an in-depth analysis of genetic and cultural factors affecting public health. [PDF]

Ann Med Surg (Lond)
Akhtar SO, Raza AA, Abdullah Y, Samadi A.   +3 more
europepmc   +1 more source

Children's Agency in Finding Happiness in the ‘Happiest Country in the World’: A Collaborative Drawing and Storytelling Case Study

Children &Society, EarlyView.
ABSTRACT This case study explores what kinds of everyday ideas a small group of Finnish children have about happiness and unhappiness, and how these ideas relate to narrated practices and actions aimed at finding happiness. We conducted collaborative drawing and storytelling workshops with 10–12‐year‐old Finnish children (N = 8).
Jennifer De Paola, Eemeli J. Hakoköngäs, Jari Martikainen, Iida Pyy   +3 more
wiley   +1 more source

Evaluating knowledge enhancement and attitudinal shift among physicians participating in capacity building workshops on expanded premarital screening in the United Arab Emirates: a cross-sectional study. [PDF]

Hum Genomics
Rahma AT, Allam M, Amoodi H, Abdullahi AS, Alameri MS, Abdulrahman WM, Al Jasmi F, Al Saffar M.   +7 more
europepmc   +1 more source

Assessment of biotinidase activity changes over time in biotinidase deficient patients. [PDF]

Front Pediatr
Gülbahçe A, Muderrisoglu A, Güneş H, Erdoğan M, Dündar M, Kardaş F.   +5 more
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Risk of hematological malignancies and anticipation in the families of patients with non-Hodgkin and Hodgkin lymphoma. [PDF]

Front Oncol
Akhtar S, Mushtaq AH, Syed H, Elhassan TAM, Alzahrani MJ, Rauf MS, Elshenawy MA, Maghfoor I.   +7 more
europepmc   +1 more source

Segmentation and gender wage disparities in the early industrial workforce: Insights from Arkwright's Lumford Mill, 1786–1811

The Economic History Review, EarlyView.
Abstract This article examines the gender wage gap and wage setting in the early cotton spinning factories of the industrial revolution, with a specific focus on Richard Arkwright's Lumford Mill in Bakewell, Derbyshire. The research links workers from the mill's wage books with parish baptism records to estimate ages and construct age–wage profiles in ...
Alexander Tertzakian
wiley   +1 more source