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Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. [electronic resource] by
- Nakano, A
- Pulkkinen, L
- Murrell, D
- Rico, J
- Lucky, A W
- Garzon, M
- Stevens, C A
- Robertson, S
- Pfendner, E
- Uitto, J
Producer: 20010628
In:
Pediatric research vol. 49
Availability: No items available.
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10.
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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. [electronic resource] by
- Riggins, G J
- Sherman, S L
- Oostra, B A
- Sutcliffe, J S
- Feitell, D
- Nelson, D L
- van Oost, B A
- Smits, A P
- Ramos, F J
- Pfendner, E
Producer: 19920716
In:
American journal of medical genetics vol. 43
Availability: No items available.
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11.
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The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. [electronic resource] by
- Sprecher, E
- Chavanas, S
- DiGiovanna, J J
- Amin, S
- Nielsen, K
- Prendiville, J S
- Silverman, R
- Esterly, N B
- Spraker, M K
- Guelig, E
- de Luna, M L
- Williams, M L
- Buehler, B
- Siegfried, E C
- Van Maldergem, L
- Pfendner, E
- Bale, S J
- Uitto, J
- Hovnanian, A
- Richard, G
Producer: 20010920
In:
The Journal of investigative dermatology vol. 117
Availability: No items available.
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