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New insights into mitochondrial segregation from the Doubly Uniparental Inheritance system in bivalves. [PDF]
BMC BiolIannello M +10 more
europepmc +1 more source
Revisiting the Genetics of Hypophosphatasia. [PDF]
J Inherit Metab DisKishnani PS +8 more
europepmc +1 more source
Genetic Allee Effects for Controlling Invasive Populations. [PDF]
Mol EcolNowell Nicolle L +3 more
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Obstetrics and Gynecology Clinics of North America, 2006
Many inherited thrombophilias have been detected and the pathophysiologic insight has increased tremendously during the last decades. Despite, however, the overwhelming observational evidence on the association between inherited thrombophilia and several women's health issues, including VTE, thus far the implications for clinical practice are uncertain.
Coppens, Michiel +2 more
openaire +3 more sources
Many inherited thrombophilias have been detected and the pathophysiologic insight has increased tremendously during the last decades. Despite, however, the overwhelming observational evidence on the association between inherited thrombophilia and several women's health issues, including VTE, thus far the implications for clinical practice are uncertain.
Coppens, Michiel +2 more
openaire +3 more sources
Inherited Macrothrombocytopenias
Seminars in Thrombosis and Hemostasis, 2014Inherited macrothrombocytopenias are a clinically heterogeneous group of disorders, many of which cause moderate-to-severe bleeding tendencies in affected individuals, but which remain under-recognized and are frequently misdiagnosed as immune thrombocytopenia purpura. Diagnostic strategies to date have included a predominant phenotypic approach.
David John, Rabbolini +3 more
openaire +2 more sources
Current Opinion in Neurology, 1994
Charcot-Marie-Tooth neuropathy (CMT) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B), the X chromosome (CMTX), and to another unknown autosome (CMT1C).
P F, Chance, M, Reilly
openaire +2 more sources
Charcot-Marie-Tooth neuropathy (CMT) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B), the X chromosome (CMTX), and to another unknown autosome (CMT1C).
P F, Chance, M, Reilly
openaire +2 more sources
Current Treatment Options in Neurology, 2011
Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed,
SCHENONE, ANGELO +4 more
openaire +2 more sources
Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed,
SCHENONE, ANGELO +4 more
openaire +2 more sources