Holmberg E - Search Results

1

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M. Arkblad EL, et al. Among authors: holmberg e. Neuromuscul Disord. 2006 Dec;16(12):830-8. doi: 10.1016/j.nmd.2006.08.011. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17049859

2

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E. Tulinius M, et al. Among authors: holmberg e. Eur J Pediatr. 2005 Feb;164(2):99-103. doi: 10.1007/s00431-004-1570-2. Epub 2004 Nov 19. Eur J Pediatr. 2005. PMID: 15558317

3

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Meuller J, Kanter-Smoler G, Nygren AO, Errami A, Grönberg H, Holmberg E, Björk J, Wahlström J, Nordling M. Meuller J, et al. Among authors: holmberg e. Genet Test. 2004 Fall;8(3):248-56. doi: 10.1089/gte.2004.8.248. Genet Test. 2004. PMID: 15727247

4

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: holmberg e. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956

5

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring.

Tulinius MH, Houshmand M, Larsson NG, Holme E, Oldfors A, Holmberg E, Wahlström J. Tulinius MH, et al. Among authors: holmberg e. Hum Genet. 1995 Sep;96(3):290-4. doi: 10.1007/BF00210409. Hum Genet. 1995. PMID: 7649544

6

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

Kyllerman M, Rosengren L, Wiklund LM, Holmberg E. Kyllerman M, et al. Among authors: holmberg e. Neuropediatrics. 2005 Oct;36(5):319-23. doi: 10.1055/s-2005-872876. Neuropediatrics. 2005. PMID: 16217707

7

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML. Nyström AM, et al. Among authors: holmberg e. J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456719

8

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Kvarnung M, Taylan F, Nilsson D, Anderlid BM, Malmgren H, Lagerstedt-Robinson K, Holmberg E, Burstedt M, Nordenskjöld M, Nordgren A, Lundberg ES. Kvarnung M, et al. Among authors: holmberg e. Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15. Clin Genet. 2018. PMID: 30221345

9

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J. Wincent J, et al. Among authors: holmberg e. Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445044

10

Facial features in children with the 22q11 deletion syndrome.

Oskarsdóttir S, Holmberg E, Fasth A, Strömland K. Oskarsdóttir S, et al. Among authors: holmberg e. Acta Paediatr. 2008 Aug;97(8):1113-7. doi: 10.1111/j.1651-2227.2008.00858.x. Epub 2008 May 14. Acta Paediatr. 2008. PMID: 18482168

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