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Results: 126-150/6545
Authors:
Fanos, JH
Puck, JM
Citation: Jh. Fanos et Jm. Puck, Family pictures: Growing up with a brother with X-linked severe combined immunodeficiency, AM J MED G, 98(1), 2001, pp. 57-63
Authors:
Khalifa, MM
Struthers, JL
Maurice, S
Harrison, K
Duncan, AMV
Citation: Mm. Khalifa et al., Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation, AM J MED G, 98(1), 2001, pp. 64-69
Authors:
Book, L
Hart, A
Black, J
Feolo, M
Zone, JJ
Neuhausen, SL
Citation: L. Book et al., Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study, AM J MED G, 98(1), 2001, pp. 70-74
Authors:
Schweitzer, DN
Graham, JM
Lachman, RS
Jabs, EW
Okajima, K
Przylepa, KA
Shanske, A
Chen, K
Neidich, JA
Wilcox, WR
Citation: Dn. Schweitzer et al., Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, AM J MED G, 98(1), 2001, pp. 75-91
Authors:
Forrester, S
Kovach, MJ
Reynolds, NM
Urban, R
Kimonis, V
Citation: S. Forrester et al., Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome, AM J MED G, 98(1), 2001, pp. 92-100
Authors:
Lin, AE
Liu, Q
Mannheim, GB
Darras, BT
Citation: Ae. Lin et al., Exclusion of growth factor gene mutations as a common cause of Sotos syndrome, AM J MED G, 98(1), 2001, pp. 101-102
Authors:
Hanna, JAS
Ball, S
Pagon, RA
Donlan, M
Citation: Jas. Hanna et al., Mother to son transmission of del(1) (q42.1q42.3), AM J MED G, 98(1), 2001, pp. 103-106
Authors:
Speevak, M
Farrell, SA
Chadwick, D
Citation: M. Speevak et al., Molecular and cytogenetic characterization of a prenatally ascertained de novo (X;Y) translocation, AM J MED G, 98(1), 2001, pp. 107-108
Authors:
St Heaps, L
Robson, L
Smith, A
Citation: L. St Heaps et al., Review of referrals for the FISH detection of Williams syndrome highlightsthe importance of testing in supravalvular aortic stenosis pulmonary stenosis, AM J MED G, 98(1), 2001, pp. 109-111
Authors:
Baty, BJ
Baker, D
Citation: Bj. Baty et D. Baker, The evolving practice of genetic counseling, AM J MED G, 106(3), 2001, pp. 175-176
Authors:
Terry, SF
Boyd, CD
Citation: Sf. Terry et Cd. Boyd, Researching the biology of PXE: Partnering in the process, AM J MED G, 106(3), 2001, pp. 177-184
Authors:
Marteau, TM
Dormandy, E
Citation: Tm. Marteau et E. Dormandy, Facilitating informed choice in prenatal testing: How well are we doing?, AM J MED G, 106(3), 2001, pp. 185-190
Authors:
Biesecker, BB
Peters, KF
Citation: Bb. Biesecker et Kf. Peters, Process studies in genetic counseling: Peering into the black box, AM J MED G, 106(3), 2001, pp. 191-198
Authors:
Benkendorf, JL
Prince, MB
Rose, MA
De Fina, A
Hamilton, HE
Citation: Jl. Benkendorf et al., Does indirect speech promote nondirective genetic counseling? Results of asociolinguistic investigation, AM J MED G, 106(3), 2001, pp. 199-207
Authors:
Wang, VO
Citation: Vo. Wang, Multicultural genetic counseling: Then, now, and in the 21st century, AM J MED G, 106(3), 2001, pp. 208-215
Authors:
Guttmacher, AE
Jenkins, J
Uhlmann, WR
Citation: Ae. Guttmacher et al., Genomic medicine: Who will practice it? A call to open arms, AM J MED G, 106(3), 2001, pp. 216-222
Authors:
Greendale, K
Pyeritz, RE
Citation: K. Greendale et Re. Pyeritz, Empowering primary care health professionals in medical genetics: How soon? How fast? How far?, AM J MED G, 106(3), 2001, pp. 223-232
Authors:
Burke, W
Pinsky, LE
Press, NA
Citation: W. Burke et al., Categorizing genetic tests to identify their ethical, legal, and social implications, AM J MED G, 106(3), 2001, pp. 233-240
Authors:
Gurrieri, F
Carrozzo, R
Citation: F. Gurrieri et R. Carrozzo, The genetics of epilepsy - Introduction, AM J MED G, 106(2), 2001, pp. 117-118
Authors:
Schinzel, A
Niedrist, D
Citation: A. Schinzel et D. Niedrist, Chromosome imbalances associated with epilepsy, AM J MED G, 106(2), 2001, pp. 119-124
Authors:
Torrisi, L
Sangiorgi, E
Russo, L
Gurrieri, F
Citation: L. Torrisi et al., Rearrangements of chromosome 15 in epilepsy, AM J MED G, 106(2), 2001, pp. 125-128
Authors:
Delgado-Escueta, AV
Ganesh, S
Yamakawa, K
Citation: Av. Delgado-escueta et al., Advances in the genetics of progressive myoclonus epilepsy, AM J MED G, 106(2), 2001, pp. 129-138
Authors:
Steinlein, OK
Citation: Ok. Steinlein, Genes and mutations in idiopathic epilepsy, AM J MED G, 106(2), 2001, pp. 139-145
Authors:
Lerche, H
Jurkat-Rott, K
Lehmann-Horn, F
Citation: H. Lerche et al., Ion channels and epilepsy, AM J MED G, 106(2), 2001, pp. 146-159
Authors:
Guerrini, R
Carrozzo, R
Citation: R. Guerrini et R. Carrozzo, Epilepsy and genetic malformations of the cerebral cortex, AM J MED G, 106(2), 2001, pp. 160-173