Neumann LM - Search Results

1

Prenatal diagnosis of Alagille syndrome.

Witt H, Neumann LM, Grollmuss O, Luck W, Becker M. Witt H, et al. Among authors: neumann lm. J Pediatr Gastroenterol Nutr. 2004 Jan;38(1):105-6. doi: 10.1097/00005176-200401000-00023. J Pediatr Gastroenterol Nutr. 2004. PMID: 14676605 No abstract available.

2

Spontaneous intracerebral hemorrhage and multiple infarction in Williams-Beuren syndrome.

Kalbhenn T, Neumann LM, Lanksch WR, Haberl H. Kalbhenn T, et al. Among authors: neumann lm. Pediatr Neurosurg. 2003 Dec;39(6):335-8. doi: 10.1159/000075263. Pediatr Neurosurg. 2003. PMID: 14734869

3

Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).

Neumann LM, Scheer I, Kunze J, Stöver B. Neumann LM, et al. Pediatr Radiol. 2003 Sep;33(9):637-40. doi: 10.1007/s00247-003-0944-3. Epub 2003 Jun 12. Pediatr Radiol. 2003. PMID: 12802536

4

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Söling A, Mönch E, Kulozik AE. Reich S, et al. Among authors: neumann lm. Pediatr Res. 2002 May;51(5):598-601. doi: 10.1203/00006450-200205000-00009. Pediatr Res. 2002. PMID: 11978883

5

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J. Neumann L, et al. Pediatr Radiol. 2003 Nov;33(11):786-90. doi: 10.1007/s00247-003-1055-x. Epub 2003 Sep 5. Pediatr Radiol. 2003. PMID: 12961049 Review.

6

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: neumann lm. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

7

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731

8

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542

9

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Robinson PN, et al. Hum Mutat. 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. Hum Mutat. 2002. PMID: 12203987 Review.

10

Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood.

Langrehr JM, Bahra M, Kristiansen G, Neumann HP, Neumann LM, Plöckinger U, Lopez-Hänninen E. Langrehr JM, et al. Among authors: neumann hp, neumann lm. J Pediatr Surg. 2007 Jul;42(7):1291-4. doi: 10.1016/j.jpedsurg.2007.02.029. J Pediatr Surg. 2007. PMID: 17618900

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