2017

The Mutation p.D313Y is Associated with Organ Manifestation in Fabry Disease
du Moulin M, Koehn A, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N
CLIN GENET. 2017 [Epub ahead of print].

Glutaric Aciduria Type 1 and Acute Renal Failure
du Moulin M, Thies B, Blohm M, Oh J, Kemper M, Santer R, Mühlhausen C
JIMD reports. 2017 [Epub ahead of print].

2016

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau A, Steinmann B
ORPHANET J RARE DIS. 2016;11:44.

2014

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
Leuders S, Wolfgart E, Ott T, du Moulin M, van Teeffelen-Heithoff A, Vogelpohl L, Och U, Marquardt T, Weglage J, Feldmann R, Rutsch F
JIMD reports. 2014;13:101-9.

2012

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho D, Kim J, Miousse I, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge E, Majewski J, Rosenblatt D, Fowler B, Rutsch F, Baumgartner M
NAT GENET. 2012;44(10):1152-5.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier M, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber S, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith W, Kahler S, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F
AM J HUM GENET. 2012;90(1):25-39.

2011

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations
du Moulin M, Nürnberg P, Crow Y, Rutsch F
P NATL ACAD SCI USA. 2011;108(26):E232; author reply E233.

2010

The professional situation of young medical graduates at the onset of the 21st century: summary and conclusions.
Bussche van den H, von Leitner E, du Moulin M
Cah Sociol Demogr Med. 2010;50:220-231.

Facharztweiterbildung im Ausland - Mythos und Realität.
du Moulin M, Bussche van den H
Deut Arzteblatt. 2010;107(3):82-84.

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F
HUM MUTAT. 2010;31(11):E1836-50.

2009

Home-based exercise training as maintenance after outpatient pulmonary rehabilitation
du Moulin M, Taube K, Wegscheider K, Behnke M, van den Bussche H
RESPIRATION. 2009;77(2):139-45.

Letzte Aktualisierung aus dem FIS: 17.07.2017 - 00:03 Uhr