نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

2014
Shamshad Ahmad Mansaf Alam

Logical Systems are the essence of our computing machines. They determine the design, understanding and most importantly the performance of the compuuting machines. Contemporary and traditional binary logic is way too old and limited in application and scope. This paper is meant to present balanced ternary logic as the most suitable logical system for our modern computing machines in terms of p...

2004
Riemke van Dijkhuizen-Radersma Aart van Apeldoorn

Microspheres of a hydrophobic and a hydrophilic poly(ether-ester) copolymer were evaluated for their in-vitro and in-vivo biocompatibility and degradation. The microspheres prior to and after sterilization were tested for in-vitro cytotoxicity. The invivo biocompatibility of the poly(ethylene glycol) terephthalate and poly(butylene terephthalate) (PEGT/PBT) microspheres was evaluated subcutaneo...

Journal: :Pediatric blood & cancer 2010
Marie Meeths Yenan T Bryceson Eva Rudd Chengyun Zheng Stephanie M Wood Kim Ramme Karin Beutel Henrik Hasle Carsten Heilmann Kjell Hultenby Hans-Gustaf Ljunggren Bengt Fadeel Magnus Nordenskjöld Jan-Inge Henter

BACKGROUND Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of G...

2013
Luisa Lorenzi Giovanna Tabellini William Vermi Daniele Moratto Fulvio Porta Lucia D. Notarangelo Ornella Patrizi Silvano Sozzani Genevieve de Saint Basile Sylvain Latour David Pace Silvia Lonardi Fabio Facchetti Raffaele Badolato Silvia Parolini

Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene (AP3B1 gene). The defect results in the impairment of the adaptor protein 3 (AP-3) complex, responsible for protein sorting to secretory lysosomes leading to oculo-cutaneous albinism, bleeding disorders and immunodeficiency. We have studied peripheral blood and lymph n...

2015
Jie Wu Hong Wu Juan Wang Jianxiong Deng Xue Gao Yan Xu Guoliang Huang Jinghui Huang Lan Guo Ciyong Lu

A growing body of studies have indicated the associations between substance use and psychosocial problems in adolescents. However, few of them have examined whether these psychosocial problems form a syndemic, which means the co-occurrence of psychosocial problems accompanied by additional effects on substance use.We conducted a cross-sectional survey with 82,812 Chinese adolescents who were se...

Journal: :Journal of medical genetics 2004
N A Garrison Z Yi O Cohen-Barak M Huizing L M Hartnell W A Gahl M H Brilliant

O culocutaneous albinism (OCA) is a genetically heterogeneous disorder characterised by abnormally low amounts of melanin in the eyes, skin, and hair. In addition to hypopigmentation of the skin and eyes, OCA patients have ocular manifestations including nystagmus, foveal hypoplasia with reduced visual acuity, and strabismus. Several subtypes of OCA exist. OCA2, the most common subtype, results...

2013
Shreekant Bharti Prateek Bhatia Deepak Bansal Neelam Varma

Chediak-Higashi syndrome is a rare autosomal recessive disease that was first described in 1943 by Bequez-Cesar in 3 siblings that bore the primary clinical features. In 1952 Chediak (a Cuban hematologist) and in 1954 Higashi (a Japanese pediatrician) described a series of cases characterized by misdistribution of myeloperoxidase in the patients’ neutrophilic granules [1,2]. Mean age of onset i...

2014

Background: Young adult survivors of paediatric brain tumours (PBTs) who have been treated with radiation therapy will likely be severely growth hormone–deficient when retested at the achievement of final height. Growth hormone replacement therapy (GHRT) is administered to treat growth hormone deficiency (GHD). Public drug coverage for GHRT falls under the responsibility of provincial governmen...

2014

Background: Young adult survivors of paediatric brain tumours (PBTs) who have been treated with radiation therapy will likely be severely growth hormone–deficient when retested at the achievement of final height. Growth hormone replacement therapy (GHRT) is administered to treat growth hormone deficiency (GHD). Public drug coverage for GHRT falls under the responsibility of provincial governmen...

2008
Jens Milbrandt

Today’s voice and data communication networks are converging towards integrated, packetoriented multi-service NGNs. Although first NGN solutions are already provided to customers in the access network (e.g. integrated phone/DSL access), the architectural design of NGNs in the metro and core environment is still under heavy development. The voice and data network convergence together with the st...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید