Results 101 to 110 of about 1,915 (178)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 [PDF]
, 2017 Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans.
Abbott, Albert +22 more
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The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
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Sinostosis húmero-radio-cubital: a propósito de un caso [PDF]
, 1995 Se presenta aparentemente el primer caso en la literatura mundial de Sinostosis Húmero-Radio-Cubital unilateral, no asociado a ninguna entidad patológica congénita, observando un crecimiento y desarrollo del resto del organismo dentro de parámetros ...
Fernandez Rodríguez, A. +2 more
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Ectrodactyly in a Mix Breed Dog [PDF]
Iranian Journal of Veterinary Surgery, 2008 Case Description- A 3-month-old, female mixed breed dog was presented to the Veterinary Teaching Hospital of Ferdowsi University with an obvious deformity in its right forelimb.
Hossein Kazemi Mehrjerdi +4 more
doaj
Drug Design, Development and Therapy, 2016 Afnan I Al-Saleem,1 Asma M Al-Jobair21Dental Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 2Department of Pediatric Dentistry and Orthodontics, College of Dentistry, King Saud University, Riyadh, Saudi ArabiaAbstract: Congenital ...
Al-Saleem AI, Al-Jobair AM
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A calf with ectrodactyly and micromelia: a case report [PDF]
Eurasian Journal of Veterinary SciencesIn this case report, a male cross-breed calf with ectrodactyly and micromelia malformation has been described individually,environment and genetic factors or both may effect congenital malformation in ruminants.
Fahrettin Alkan +3 more
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Clinical Case Reports, 2018 Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion.
Kikue Terada Abe +5 more
doaj +1 more source
Aneuploidy – trisomy of the 21 chromosome [PDF]
, 2009 Trisomija kromosoma 21 je vrsta aneuploidije, tj. genetički poremećaj koji uzrokuje bolest pod nazivom Down-ov sindrom (DS). Karakteristična obilježja te bolesti su mentalna zaostalost, zastoj u fizičkom rastu i razvoju, te karakterističan izgled glave ...
Baričević, Andreja
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Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias [PDF]
, 1997 Loss of chromosome 7 (-7) or deletion of its long arm (7q-) are recurring chromosome abnormalities in myeloid disorders, especially in therapy-related myelodysplastic syndrome (t-MDS) and acute myeloid leukemia (t-AML).
Brown, JM +8 more
core +1 more source
Investigation of the relationship between s-methoprene and deformities in anurans. [PDF]
, 2002 Volume ...
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