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Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
by
HEHR, Ute
,
GROSS, Claudia
,
DIEBOLD, Uta
,
WAHL, Dagmar
,
BEUDT, Ulrike
,
HEIDEMANN, Peter
,
HEHR, Andreas
,
MUELLER, Dietmar
Published in
European journal of pediatrics
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Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study
by
SCHLOTE, W
,
HARZER, K
,
CHRISTOMANOU, H
,
PATON, B. C
,
KUSTERMANN-KUHN, B
,
SCHMID, B
,
SEEGER, J
,
BEUDT, U
,
SCHUSTER, I
,
LANGENBECK, U
Published in
European journal of pediatrics
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Hirschsprung disease : paternal transmission to a son
by
SKOPNIK, H
,
BEUDT, U
,
STEINAU, G
,
MEIER-RUGE, W
,
HADEBANK, M
Published in
European journal of pediatrics
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European Journal Of Pediatrics
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Biological And Medical Sciences
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Cerebroside-Sulfatase - Metabolism
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Colon - Pathology
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Dna Mutational Analysis
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Familial Occurrence
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Fundamental And Applied Biological Sciences. Psychology
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Gastroenterology. Liver. Pancreas. Abdomen
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