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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. [electronic resource] by
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- Traupe, H
- Kiesewetter, F
- Cursiefen, C
- Huk, W
- Raab, K
- Orth, U
- Rauch, A
- Pfeiffer, R A
Producer: 19981020
In:
American journal of medical genetics vol. 78
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263.
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Correlation between testicular tissue and H-Y phenotype in intersex patients. [electronic resource] by
- Müller, U
- Mayerová, A
- Debus, B
- Fraccaro, M
- Gilgenkrantz, S
- Glatzl, J
- Madan, K
- Pfeiffer, R A
- Prader, A
- Zuffardi, O
Producer: 19830505
In:
Clinical genetics vol. 23
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264.
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265.
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The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52. [electronic resource] by
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- Pelet, A
- Royer, G
- Delrieu, O
- Serville, F
- le Marec, B
- Gruensteudel, A
- Pfeiffer, R A
- Briard, M L
- Dubay, C
Producer: 19921201
In:
Genomics vol. 14
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267.
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Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat. [electronic resource] by
- Pfeiffer, R A
- Rauch, A
- Trautmann, U
- Dörr, H G
- Hiort, O
- Scherer, G
- Rösch, G
- Papadopoulos, T
- v d Hardt, K
- Lachmann, E
Producer: 19990503
In:
European journal of pediatrics vol. 158
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268.
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Isochromosome 18p results from maternal meiosis II nondisjunction. [electronic resource] by
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- Bundscherer, G
- Bernasconi, F
- Brecevic, L
- Lurie, I W
- Basaran, S
- Baccicchetti, C
- Höller, A
- Castellan, C
- Braun-Quentin, C
- Pfeiffer, R A
- Schinzel, A
Producer: 19970102
In:
European journal of human genetics : EJHG vol. 4
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270.
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Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. [electronic resource] by
- Robin, N H
- Feldman, G J
- Mitchell, H F
- Lorenz, P
- Wilroy, R S
- Zackai, E H
- Allanson, J E
- Reich, E W
- Pfeiffer, R A
- Clarke, L A
Producer: 19950413
In:
Human molecular genetics vol. 3
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271.
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Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. [electronic resource] by
- Michels-Rautenstrauss, K G
- Mardin, C Y
- Budde, W M
- Liehr, T
- Polansky, J
- Nguyen, T
- Timmerman, V
- Van Broeckhoven, C
- Naumann, G O
- Pfeiffer, R A
- Rautenstrauss, B W
Producer: 19980303
In:
Human genetics vol. 102
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272.
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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. [electronic resource] by
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- Südbeck, P
- Held, M
- Wagner, T
- Schmitz, M L
- Bricarelli, F D
- Eggermont, E
- Friedrich, U
- Haas, O A
- Kobelt, A
- Leroy, J G
- Van Maldergem, L
- Michel, E
- Mitulla, B
- Pfeiffer, R A
- Schinzel, A
- Schmidt, H
- Scherer, G
Producer: 19970326
In:
Human molecular genetics vol. 6
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273.
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Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. [electronic resource] by
- Gustavsson, P
- Garelli, E
- Draptchinskaia, N
- Ball, S
- Willig, T N
- Tentler, D
- Dianzani, I
- Punnett, H H
- Shafer, F E
- Cario, H
- Ramenghi, U
- Glomstein, A
- Pfeiffer, R A
- Goringe, A
- Olivieri, N F
- Smibert, E
- Tchernia, G
- Elinder, G
- Dahl, N
Producer: 19981223
In:
American journal of human genetics vol. 63
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274.
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[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]. [electronic resource] by
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- Bertalanffy, H
- Dichgans, J J
- Elger, C E
- Hopf, H
- Hopf, N
- Keidel, M
- Kleider, A
- Nowak, G
- Pfeiffer, R A
- Schramm, J
- Spuck, S
- Stefan, H
- Sure, U
- Baumann, C R
- Rouleau, G A
- Verlaan, D J
- Andermann, E
- Andermann, F
Producer: 20050927
In:
Der Nervenarzt vol. 76
Availability: No items available.
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