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Digeorge syndrome 13q deletion syndrome Trisomy 22 Chromosome 5q deletion syndrome Jacobsen syndrome Down syndrome Philadelphia chromosome Mcleod syndrome Genetics of down syndrome Emanuel syndrome 1p36 deletion syndrome Methylmalonic acidemia Canavan disease Fg syndrome 1q21.1 deletion syndrome Patau syndrome Sanfilippo syndrome Chromosomal deletion syndrome Cri du chat syndrome Edwards syndrome Pfeiffer syndrome Leigh syndrome Genetic disorder I-cell disease Neurofibromatosis type i Microdeletion syndrome Menkes disease Lafora disease Congenital myasthenic syndrome Trisomy 8 Angelman syndrome Alexander disease Charge syndrome Severe combined immunodeficiency Dyskeratosis congenita Bloom syndrome Lig4 syndrome Achondroplasia Glycogen storage disease type ii Laminopathy Trinucleotide repeat expansion Nijmegen breakage syndrome Diastrophic dysplasia Pyruvate dehydrogenase deficiency Crouzon syndrome Cancer syndrome Incontinentia pigmenti Joubert syndrome Noonan syndrome Short qt syndrome Familial dysautonomia Fragile x syndrome Tetra-amelia syndrome Robinow syndrome Carpenter syndrome Homocystinuria Opsoclonus myoclonus syndrome Proteus syndrome Aicardi syndrome Alkaptonuria Metachromatic leukodystrophy Gata2 deficiency Stickler syndrome Muenke syndrome Leukocyte adhesion deficiency Fabry disease Cat eye syndrome Lysosomal acid lipase deficiency Osteogenesis imperfecta Focal cortical dysplasia Ipex syndrome Neurofibromatosis type ii Refsum disease Pycnodysostosis Mucolipidosis Apert syndrome Pentalogy of cantrell Brugada syndrome Hereditary elliptocytosis Friedreich's ataxia Dentin dysplasia Schwannomatosis Congenital adrenal hyperplasia Prothrombin g20210a Cleidocranial dysostosis Septo-optic dysplasia Trisomy x Brunner syndrome Griscelli syndrome Peripheral myelin protein 22 Amelogenesis imperfecta Gaucher's disease Tuberous sclerosis Marfan syndrome Cephalic disorder Triploid syndrome Symbrachydactyly Glycogen storage disease type iii Pyruvate kinase deficiency Lateral medullary syndrome

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