Results 21 to 30 of about 160,012 (248)

Jacobsen syndrome associated with Shone’s complex: a case report [PDF]

Revista Paulista de Pediatria
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome
Andressa Brum, Larissa Valéria Laskoski, Fabiana Gonçalves de Oliveira Azevedo Matos, Luciana Paula Grégio d’Arce   +3 more
doaj   +1 more source

Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain

Neurology, 2019
An 8-month-old boy presented with developmental delay, diffuse hypotonia, hypoplastic left heart syndrome, undescended testes, neonatal thrombocytopenia, and unusual facies.
Himadri Patel, Ashutosh Kumar, G. Raymond, Gayatra Mainali   +3 more
semanticscholar   +1 more source

Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and thrombocytopenia

Acta Medica Lituanica, 2012
Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity.
Vaidas DIRSĖ, Loreta CIMBALISTIENĖ, Jūratė KASNAUSKIENĖ, Vaidutis KUČINSKAS   +3 more
doaj   +1 more source

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Journal of Medical Case Reports, 2018
Background11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Y. Ichimiya, Y. Wada, S. Kunishima, Keiko Tsukamoto, R. Kosaki, H. Sago, Akira Ishiguro, Yushi Ito   +7 more
semanticscholar   +1 more source

OBITUARY

Bothalia: African Biodiversity & Conservation, 1996
WERNER BAHNE GEORG JACOBSEN (1909-1995)
N. G. H. Jacobsen, J. B. E. Jacobsen
doaj   +1 more source

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

Nature Communications, 2016
Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however ...
Tsutomu Nakamura, Fumiko Arima‐Yoshida, F. Sakaue, Y. Nasu‐Nishimura, Yasuko Takeda, Ken Matsuura, N. Akshoomoff, S. Mattson, P. Grossfeld, T. Manabe, T. Akiyama   +10 more
semanticscholar   +1 more source

Dannelse og kompetence

Cepra-Striben, 2019
Svar på replik fra Hanne Leth Andersen og Jens Christian ...
Palle Rasmussen
doaj   +1 more source

The Posterior Sustained Negativity Revisited - An SPN Reanalysis of Jacobsen and Höfel (2003)

Symmetry, 2018
Symmetry is an important cue for the aesthetic judgment of beauty. Using a binary forced-choice format in a cued mixed design, Jacobsen and Hofel (2003) compared aesthetic judgments of beauty and symmetry judgments of novel graphic patterns.
T. Jacobsen, Stina Klein, A. Löw
semanticscholar   +1 more source

Hugh Newell Jacobsen Guest Lecture

, 1993
Architectural projects and/or sites mentioned: Palace of Minos (2000 B.C.E. - 1400 B.C.E.) (Knossos, Greece) ; Piedmont (Lehrer House) (Hugh Newell Jacobsen, 1735/1989-1990) (Charles Town, West Virginia) ; Hillside House (Hugh Newell Jacobsen and Andrea ...
Jacobsen, Hugh Newell
core   +1 more source

Pengaruh Penerapan Teknik Rileksasi terhadap Peningkatan Kemampuan Konsentrasi Siswa

Jurnal Pendidikan Jasmani dan Olahraga, 2018
The purpose of this study was to determine and to analyze the effect of the implementation of Jacobsen’s progressive relaxation techniques and Schulte software concentration training on improving students' concentration ability.
Jajat Darajat Kusumah Negara, Titik Syadiah   +1 more
doaj   +1 more source