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1.
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Am J Hum Genet
; 89(1): 15-27, 2011 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21763480
2.
Unilateral Multifocal Inner Ear and Internal Auditory Canal or Cerebellopontine Angle Cochleovestibular Schwannomas-Genetic Analysis and Management by Surgical Resection and Cochlear Implantation.
Otol Neurotol
; 45(5): 580-586, 2024 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38437842
3.
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
BMC Med Genet
; 11: 110, 2010 Jul 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-20618940
4.
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Am J Med Genet A
; 152A(11): 2749-55, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20979188
5.
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Nucleus
; 1(4): 354-66, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-21327084
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