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Results:
1-14
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Results: 14
Authors:
Larson, ARU
Josephson, KD
Pauli, RM
Opitz, JM
Williams, MS
Citation: Aru. Larson et al., Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?, AM J MED G, 101(2), 2001, pp. 158-162
Authors:
Reynolds, KK
Modaff, P
Pauli, RM
Citation: Kk. Reynolds et al., Absence of correlation between infantile hypotonia and foramen magnum sizein achondroplasia, AM J MED G, 101(1), 2001, pp. 40-45
Authors:
Brennan, AM
Pauli, RM
Citation: Am. Brennan et Rm. Pauli, Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems, AM J MED G, 100(4), 2001, pp. 292-310
Authors:
Melkoniemi, M
Brunner, HG
Manouvrier, S
Hennekam, R
Superti-Furga, A
Kaariainen, H
Pauli, RM
van Essen, T
Warman, ML
Bonaventure, J
Miny, P
Ala-Kokko, L
Citation: M. Melkoniemi et al., Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene, AM J HU GEN, 66(2), 2000, pp. 368-377
Authors:
Rosenberg, MJ
Vaske, D
Killoran, CE
Ning, Y
Wargowski, D
Hudgins, L
Tifft, CJ
Meck, J
Blancato, JK
Rosenbaum, K
Pauli, RM
Weber, J
Biesecker, LG
Citation: Mj. Rosenberg et al., Detection of chromosomal aberrations by a whole-genome microsatellite screen, AM J HU GEN, 66(2), 2000, pp. 419-427
Authors:
Hurvitz, JR
Suwairi, WM
Van Hul, W
El-Shanti, H
Superti-Furga, A
Roudier, J
Holderbaum, D
Pauli, RM
Herd, JK
Van Hul, E
Rezai-Delui, H
Legius, E
Le Merrer, M
Al-Alami, J
Bahabri, SA
Warman, ML
Citation: Jr. Hurvitz et al., Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia, NAT GENET, 23(1), 1999, pp. 94-98
Authors:
Sisk, EA
Heatley, DG
Borowski, BJ
Leverson, GE
Pauli, RM
Citation: Ea. Sisk et al., Obstructive sleep apnea in children with achondroplasia: Surgical and anesthetic considerations, OTO H N SUR, 120(2), 1999, pp. 248-254
Authors:
Pauli, RM
Modaff, P
Citation: Rm. Pauli et P. Modaff, Jugular bulb dehiscence in achondroplasia, INT J PED O, 48(2), 1999, pp. 169-174
Authors:
Williams, MS
Williams, JL
Wargowski, DS
Pauli, RM
Pletcher, BA
Citation: Ms. Williams et al., Filippi syndrome: Report of three additional cases, AM J MED G, 87(2), 1999, pp. 128-133
Authors:
Pauli, RM
Modaff, P
Sipes, SL
Whyte, MP
Citation: Rm. Pauli et al., Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken, AM J MED G, 86(5), 1999, pp. 434-438
Authors:
Pauli, RM
Scheib-Wixted, S
Cripe, L
Izumo, S
Sekhon, GS
Citation: Rm. Pauli et al., Ventricular noncompaction and distal chromosome 5q deletion, AM J MED G, 85(4), 1999, pp. 419-423
Authors:
Schultz, C
Langer, LO
Laxova, R
Pauli, RM
Citation: C. Schultz et al., Atelosteogenesis type III: Long term survival, prenatal diagnosis, and evidence for dominant transmission, AM J MED G, 83(1), 1999, pp. 28-42
Authors:
Murillo, FM
Kobayashi, H
Pegoraro, E
Galluzzi, G
Creel, G
Mariani, C
Farina, E
Ricci, E
Alfonso, G
Pauli, RM
Hoffman, EP
Citation: Fm. Murillo et al., Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15, NEUROLOGY, 53(1), 1999, pp. 50-56
Authors:
Kohlhase, J
Taschner, PEM
Burfeind, P
Pasche, B
Newman, B
Blanck, C
Breuning, MH
ten Kate, LP
Maaswinkel-Mooy, P
Mitulla, B
Seidel, J
Kirkpatrick, SJ
Pauli, RM
Wargowski, DS
Devriendt, K
Proesmans, W
Gabrielli, O
Coppa, GV
Wesby-van Swaay, E
Trembath, RC
Schinzel, AA
Reardon, W
Seemanova, E
Engel, W
Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445
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