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PubPharm (14)
1
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Williams, M.
|
Menkovic, I.
|
Reitnauer, P.
| +4
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2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
enthalten in:
Cell reports
| 2015
von
Gonzaga-Jauregui, C.
|
Harel, T.
|
Gambin, T.
| +32
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3
Autoimmune polyendocrinopathy associated with ring chromosome 18
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2011
von
Jain, N.
|
Reitnauer, P.
|
Rao, K.
| +2
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4
Autoimmune polyendocrinopathy associated with ring chromosome 18
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2011
von
Jain, N.
|
Reitnauer, P.
|
Rao, K.
| +2
Wird geladen...
5
Autoimmune polyendocrinopathy associated with ring chromosome 18
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2011
von
Jain, N.
|
Reitnauer, P.
|
Rao, K.
| +2
Wird geladen...
6
Autoimmune polyendocrinopathy associated with ring chromosome 18
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2011
von
Jain, N.
|
Reitnauer, P.
|
Rao, K.
| +2
Wird geladen...
7
Autoimmune polyendocrinopathy associated with ring chromosome 18
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2011
von
Jain, N.
|
Reitnauer, P.
|
Rao, K.
| +2
Wird geladen...
8
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2010
von
Bachmann-Gagescu, R.
|
Mefford, H.
|
Cowan, C.
| +14
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9
Positive association between congenital anomalies and risk of neuroblastoma
enthalten in:
Pediatric blood & cancer
| 2005
von
Menegaux, F.
|
Olshan, A.
|
Reitnauer, P.
| +2
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10
Positive association between congenital anomalies and risk of neuroblastoma
enthalten in:
Pediatric blood & cancer
| 2005
von
Menegaux, F.
|
Olshan, A.
|
Reitnauer, P.
| +2
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The journal of pediatric endocrinology and meta...
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4-hydroxy-6-methyl-2-pyrone
1
Adaptor Proteins, Signal Transducing
1
DNAJB5 protein, human
1
EC 2.3.1.50
1
HMG-CoA synthase deficiency
1
HSP40 Heat-Shock Proteins
1
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA sy...
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Myelin P2 Protein
1
Non-ketotic hypoglycemia
1
PMP2 protein, human
1
Research Support, U.S. Gov't, P.H.S.
1
SH2B1 protein, human
1
SPTLC3 protein, human
1
Serine C-Palmitoyltransferase
1
Urine organic acids
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autoimmune polyendocrinopathy
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