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1.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32488467
2.
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.
Int J Mol Med
; 16(3): 437-41, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16077952
3.
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Medicine (Baltimore)
; 82(3): 203-15, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12792306
4.
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
Am J Kidney Dis
; 41(1): 95-104, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12500226
5.
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
Br J Haematol
; 117(1): 164-7, 2002 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-11918549
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