24 results on '"Houge, Gunnar"'
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2. PIEZO2‐related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group
3. LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
4. Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism
5. Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome
6. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature
7. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome
8. The intronicABCA4c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level
9. A second patient with a De NovoGABRB1mutation and epileptic encephalopathy
10. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
11. Ocular pterygium—Digital keloid dysplasia
12. Haploinsufficiency ofMEIS2is associated with orofacial clefting and learning disability
13. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion
14. Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
15. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate
16. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includesXIST and disrupts theEDA gene
17. Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children
18. Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15‐breakpoint CCR
19. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
20. Usefulness of high‐resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities
21. Elevated cAMP gives short‐term inhibition and long‐term stimulation of hepatocyte DNA replication: Roles of the cAMP‐dependent protein kinase subunits
22. Selective cleavage of 28S rRNA variable regions V3 and V13 in myeloid leukemia cell apoptosis
23. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
24. Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
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