Hamel BC - Search Results

1

Spinal muscular atrophy combined with congenital heart disease: a report of two cases.

Mulleners WM, van Ravenswaay CM, Gabreëls FJ, Hamel BC, van Oort A, Sengers RC. Mulleners WM, et al. Among authors: hamel bc. Neuropediatrics. 1996 Dec;27(6):333-4. doi: 10.1055/s-2007-973805. Neuropediatrics. 1996. PMID: 9050054 No abstract available.

2

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreëls FJ, Mullaart RA, Hamel BC. Geerdink N, et al. Among authors: hamel bc. Neuropediatrics. 2002 Feb;33(1):33-6. doi: 10.1055/s-2002-23598. Neuropediatrics. 2002. PMID: 11930274

3

Familial adult-onset muscular dystrophy with leukoencephalopathy.

van Engelen BG, Leyten QH, Bernsen PL, Gabreëls FJ, Barkhof F, Joosten EM, Hamel BC, ter Laak HJ, Ruijs MB, Cruysberg JR, et al. van Engelen BG, et al. Among authors: hamel bc. Ann Neurol. 1992 Oct;32(4):577-80. doi: 10.1002/ana.410320415. Ann Neurol. 1992. PMID: 1456743

4

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.

Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M. Tranebjaerg L, et al. Among authors: hamel bc. Eur J Hum Genet. 2000 Jun;8(6):464-7. doi: 10.1038/sj.ejhg.5200483. Eur J Hum Genet. 2000. PMID: 10878669

5

[Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness?].

Sengers RC, Hamel BC, Otten BJ, van Gils JF, de Pagter AG. Sengers RC, et al. Among authors: hamel bc. Tijdschr Kindergeneeskd. 1985 Feb;53(1):31-4. Tijdschr Kindergeneeskd. 1985. PMID: 4039476 Dutch.

6

Oculocutaneous albinism associated with motor neuron disease.

Hamel BC, Sengers RC, Stadhouders AM, Jaspar HH, Ter Laak HJ, Trijbels JM, Gabreëls-Festen AW. Hamel BC, et al. Helv Paediatr Acta. 1978 Feb;32(6):487-93. Helv Paediatr Acta. 1978. PMID: 632111

7

Psychometric assessment of families with X-linked mental retardation.

van Roosmalen T, Smits AP, Thoonen GH, Hamel BC, Assman-Hulmans CF, Gabreels FJ. van Roosmalen T, et al. Among authors: hamel bc. Am J Med Genet. 1999 Apr 2;83(4):264-7. doi: 10.1002/(sici)1096-8628(19990402)83:4<264::aid-ajmg6>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10208159

8

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

9

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB. Kleefstra T, et al. Among authors: hamel bc. Am J Med Genet A. 2006 Mar 15;140(6):618-23. doi: 10.1002/ajmg.a.31123. Am J Med Genet A. 2006. PMID: 16470689

10

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. Among authors: hamel bc. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.

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