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Results of search for 'au:"PFEIFFER, R A"', page 13 of 14
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Authors
Ammermann, M
BACHMANN, K D
Baisch, C
Ballhausen, W G
Beinder, E
Bier, L
Büchner, T
Diekmann, L
Henkel, K E
KOSENOW, W
Kessel, E
Lenz, W
Majewski, F
PFEIFFER, R A
Pfeiffer, R A
Rauch, A
Rott, H D
Stöss, H
Trautmann, U
Ulmer, R
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Topics
Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Female
Humans
Infant
Infant, Newborn
Intellectual Disability
Karyotyping
Male
Pedigree
Pregnancy
Syndrome
Trisomy
abnormalities
genetics
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Your search returned 274 results.
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241.
Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.
[electronic resource]
by
Schmid, O
Trautmann, U
Ashour, H
Ulmer, R
Pfeiffer, R A
Beinder, E
Producer:
20010109
In:
Prenatal diagnosis
vol. 20
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242.
Invasive dysgerminoma in a girl with 45,X/46,X; mar mosaicism.
[electronic resource]
by
Pfeiffer, R A
Tietze, U
Krone, H A
Schaaff, A
Dhom, G
Peter, H
Producer:
19830923
In:
Archives of gynecology
vol. 233
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243.
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.
[electronic resource]
by
Cursiefen, C
Schlötzer-Schrehardt, U
Holbach, L M
Pfeiffer, R A
Naumann, G O
Producer:
19990519
In:
Archives of ophthalmology (Chicago, Ill. : 1960)
vol. 117
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244.
A familial mutation in the testis-determining gene SRY shared by both sexes.
[electronic resource]
by
Jäger, R J
Harley, V R
Pfeiffer, R A
Goodfellow, P N
Scherer, G
Producer:
19930218
In:
Human genetics
vol. 90
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245.
[Hemihypertrophy, nevus sebaceous, multiple bone cysts and cerebroretinal angiomatosis: a complex phakomatosis].
[electronic resource]
by
Goldschmidt, H
Thiede, G
Pfeiffer, R A
Damaske, E
Müller, K M
Brill, H
Producer:
19770611
In:
Helvetica paediatrica acta
vol. 31
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246.
Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life.
[electronic resource]
by
Rohrer, T R
Gassmann, K F
Rauch, A
Pfeiffer, R A
Doerr, H G
Producer:
20040423
In:
American journal of medical genetics. Part A
vol. 126A
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247.
A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
[electronic resource]
by
Rauch, A
Pfeiffer, R A
Trautmann, U
Liehr, T
Rott, H D
Ulmer, R
Producer:
19921202
In:
Clinical genetics
vol. 42
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248.
Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene.
[electronic resource]
by
Kraus, C
Günther, K
Vogler, A
Hohenberger, W
Pfeiffer, R A
Ballhausen, W G
Producer:
19980925
In:
Molecular and cellular probes
vol. 12
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249.
[Observations on the Prune-Belly syndrome].
[electronic resource]
by
Welling, P
Pfeiffer, R A
Kosenow, W
Bliesener, J A
Jones, K V
Haarmeyer, A
Producer:
19750731
In:
Zeitschrift fur Kinderheilkunde
vol. 118
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250.
Monozygotic twins concordant for Cayler syndrome.
[electronic resource]
by
Rauch, A
Hofbeck, M
Bähring, S
Leipold, G
Trautmann, U
Singer, H
Pfeiffer, R A
Producer:
19980227
In:
American journal of medical genetics
vol. 75
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251.
Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.
[electronic resource]
by
Schwanitz, G
Tietze, H U
Pfeiffer, R A
Grosse, K P
Becker, H
Egger, H
Producer:
19780724
In:
Acta geneticae medicae et gemellologiae
vol. 26
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252.
Partial trisomy 7p in two families resulting from different balanced translocations.
[electronic resource]
by
Moore, C M
Pfeiffer, R A
Craig-Holmes, A P
Scott, C I
Meisel-Stosiek, M
Producer:
19820826
In:
Clinical genetics
vol. 21
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253.
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
[electronic resource]
by
Wirth, J
Wagner, T
Meyer, J
Pfeiffer, R A
Tietze, H U
Schempp, W
Scherer, G
Producer:
19960307
In:
Human genetics
vol. 97
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254.
Atelosteogenesis.
[electronic resource]
by
Maroteaux, P
Spranger, J
Stanescu, V
Le Marec, B
Pfeiffer, R A
Beighton, P
Mattei, J F
Producer:
19821216
In:
American journal of medical genetics
vol. 13
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255.
Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.
[electronic resource]
by
Diekmann, L
Palm, K
Pfeiffer, R A
Trautmann, U
Scholz, W
Schroers, E
Vogt, P
Köhler, M
Producer:
19921201
In:
Human genetics
vol. 90
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256.
Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
[electronic resource]
by
Rauch, A
Hofbeck, M
Leipold, G
Klinge, J
Trautmann, U
Kirsch, M
Singer, H
Pfeiffer, R A
Producer:
19981020
In:
American journal of medical genetics
vol. 78
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257.
[Clinical, pathological, and biochemical studies in a case of infantile generalized gangliosidosis (G M1 -mucolipidosis]].
[electronic resource]
by
Pfeiffer, R A
Diekmann, L
Wierich, W
von Bassewitz, D B
Jünemann, G
Damaske, E
Werries, E
Wässle, K
Producer:
19720622
In:
Zeitschrift fur Kinderheilkunde
vol. 112
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258.
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
[electronic resource]
by
Rauch, A
Schellmoser, S
Kraus, C
Dörr, H G
Trautmann, U
Altherr, M R
Pfeiffer, R A
Reis, A
Producer:
20010816
In:
American journal of medical genetics
vol. 99
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259.
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
[electronic resource]
by
Robinow, M
Pfeiffer, R A
Gorlin, R J
McKusick, V A
Renuart, A W
Johnson, G F
Summitt, R L
Producer:
19710530
In:
American journal of diseases of children (1960)
vol. 121
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260.
The nosologic place of the XO-XY mosaicism.
[electronic resource]
by
Pfeiffer, R A
Lambertz, B
Friederiszick, F K
Distel, H
Pawlowitzki, I H
Nicole, R
Ober, K G
Ruckes, J
Producer:
19690822
In:
Archiv fur Gynakologie
vol. 206
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