| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.20385 |
| P953 | full work available at URL | https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20385 |
| https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20385 | ||
| P698 | PubMed publication ID | 14608652 |
| P2093 | author name string | Pia Höglund | |
| Eino Marttinen | |||
| Reetta Jalkanen | |||
| Tiina Alitalo | |||
| P2860 | cites work | Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 |
| Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis | Q24538890 | ||
| A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. | Q24538946 | ||
| Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively | Q24633194 | ||
| Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy | Q28139470 | ||
| Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice | Q28300764 | ||
| Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency | Q28505078 | ||
| Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications | Q34390500 | ||
| Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa | Q35249537 | ||
| Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature | Q36335150 | ||
| Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies | Q38537483 | ||
| Interstitial deletion of chromosome 1 [del(1)(q25q32)] in an infant with prune belly sequence | Q41932489 | ||
| Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]. | Q41933484 | ||
| Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32). | Q44607080 | ||
| Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome | Q44908701 | ||
| Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1 | Q46208934 | ||
| Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome | Q48083683 | ||
| Multistep control of pituitary organogenesis | Q48577432 | ||
| Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. | Q50560371 | ||
| Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q. | Q52091439 | ||
| Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree | Q52109949 | ||
| Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. | Q54036914 | ||
| Fast and sensitive silver staining of DNA in polyacrylamide gels | Q67699472 | ||
| Lip pits and deletion 1q32----41 | Q69741211 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | genetics | Q7162 |
| chromosomal deletion syndrome | Q16918398 | ||
| P304 | page(s) | 290-295 | |
| P577 | publication date | 2003-12-01 | |
| 2003-12-15 | |||
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations | |
| P478 | volume | 123A |
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