Results 201 to 210 of about 153,225 (341)
Lapsen äkillisen välikorvatulehduksen hoidon ohjaus ja kotihoito-ohje vanhemmille [PDF]
, 2017 Toiminnallisen opinnäytetyömme tarkoituksena oli laatia vanhemmille kirjallinen kotihoito-ohje lasten äkillisen välikorvatulehduksen kotihoidosta sekä jälkitarkastuksesta Tikkurilan terveysasemalle.
Tabell, Johanna, Turunen, Terhi
core
Clinical Genetics, EarlyView.Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Alistair T. Pagnamenta +6 more
wiley +1 more source
Clinical Genetics, EarlyView.BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson +5 more
wiley +1 more source
CLINICAL INVESTIGATION OF NERVE DEAFNESS DEVELOPING AFTER OTITIS MEDIA
, 1953 Ichiro Kirikae, Yutaka Kitayama
openalex +2 more sources
Non-Suppurative Intracranial Complications of Otitis Media [PDF]
, 1937 Andrew McConnell
openalex +1 more source
Clinical Genetics, EarlyView.We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman +11 more
wiley +1 more source
AUDIOLOGICAL STUDIES ON THE CHRONIC OTITIS MEDIA
, 1953 S Horiguti, Takatsugu Tsunoda
openalex +2 more sources