Results 241 to 250 of about 73,318 (285)

Association of missense variant DCLRE1B rs3761936 with breast and cervical cancer risk-A case-control study. [PDF]

PLoS One
Jafrin S, Aziz MA, Barek MA, Reza MS, Naznin NE, Islam MS.   +5 more
europepmc   +1 more source

[Ankylosing spondylitis in homozygote twins].

Lijecnicki vjesnik, 1968
openaire   +1 more source

Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing

Chundru VK, Wright HIW, Frayling TM, Wood AR, Weedon MN, Wright CF, Beaumont RN, Hawkes G.   +7 more
europepmc   +1 more source

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.

J Clin Endocrinol Metab
Widmer A, Zumsteg U, Szinnai G, Filges I, Meier S, De Geyter J, Antwi K, Wild D, Nuoffer JM, Christ E.   +9 more
europepmc   +1 more source

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Homozygotes for FRA16B are Normal

Chromosome Research, 1999
Homozygotes for the rare folate-sensitive autosomal fragile sites have never been recorded. Two non-folate-sensitive rare fragile sites (FRA10B and FRA17A) have been previously recorded in normal individuals. We document two unrelated normal individuals who are homozygotes for the rare fragile site FRA16B and record the patterns of induction of this ...
Hocking, T., Feichtinger, W., Schmid, M., Haan, E., Baker, E., Sutherland, G.   +5 more
openaire   +3 more sources

Homozygote Alloalbumin�mie B

Klinische Wochenschrift, 1973
Bei der systematischen Untersuchung von 26 Familien von Patienten, die als Nebenbefund eine Bisalbuminamie aufwiesen, wurde eine gesunde homozygote Merkmalstragerin mit Alloalbumin B (AlB/AlB) entdeckt. Auserdem fanden wir ofter transitorische, nicht familiare Bisalbuminamie.
H. Ott, St. Sandk�hler, B. Feinauer
openaire   +1 more source

Synpolydactyly of the Foot in Homozygotes

Journal of the American Podiatric Medical Association, 2006
In 2002, we reinvestigated a large synpolydactyly kindred first described in 1995. It was found to have expanded with an increase in number of homozygous offspring. These homozygotes had severe hypoplasia, with synpolydactyly of their hands and feet. We present the clinical, genetic, and surgical findings of this deformity and the histologic findings ...
Ilhami, Kuru, Gokhan, Maralcan, Aylin, Yucel, Fatma, Aktepe, Seval, Turkmen, Mustafa, Solak   +5 more
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Psychiatric findings in Wolfram syndrome homozygotes

The Lancet, 1990
Diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive Wolfram syndrome. Diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 Wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding
R G, Swift, D B, Sadler, M, Swift
openaire   +2 more sources