Mutations in FOXC2 ( MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome von Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.

Volltext

Monozygotic twins discordant for trisomy 13 von Ramsey, K Wong, Slavin, T P, Graham, G, Hirata, G I, Balaraman, V, Seaver, L H

Volltext

Toluene embryopathy : delineation of the phenotype and comparison with fetal alcohol syndrome von PEARSON, M. A, HOYME, H. E, SEAVER, L. H, RIMSZA, M. E

Volltext

Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States von Stevenson, Roger E, Allen, William P, Pai, G. Shashidhar, Best, Robert, Seaver, Laurie H, Dean, Jane, Thompson, Shirley

Volltext

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation von Slavin, T. P., Zaidi, S. J., Neal, C., Nishikawa, B., Seaver, L. H.

Volltext

Fatal cardiomyopathy associated with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency von Gibson, K. M., Cassidy, S. B., Seaver, L. H., Wanders, R. J. A., Kennaway, N. G., Mitchell, G. A., Spark, R. P.

Volltext

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita von Zhang, Yao-Hua, Huang, Bing-Ling, Anyane-Yeboa, Kwame, Carvalho, Julienne A.R., Clemons, Robert D., Cole, Trevor, De Figueiredo, Bonald C., Lubinsky, Mark, Metzger, Daniel L., Quadrelli, Roberto, Repaske, David R., Reyno, Soraya, Seaver, Laurie H., Vaglio, Alicia, Van Vliet, Guy, McCabe, Linda L., McCabe, Edward R.B., Phelan, James K.

Volltext

ACMG practice guidelines Genetic evaluation of short stature von Seaver, L H, Irons, M

Volltext

341 MANDIBULOACRAL DYSPLASIA: AN UNUSUAL CASE OF A RARE DISORDER von Cushing, T. H., Manning, M. A., Seaver, L. H., Brumblay, J. M., Hoyme, H. E.

Volltext

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype von Moles, Kimberly J., Gowans, Gordon C., Gedela, Satyanarayana, Beversdorf, David, Yu, Arthur, Seaver, Laurie H., Schultz, Roger A., Rosenfeld, Jill A., Torchia, Beth S., Shaffer, Lisa G.

Volltext

Indications for genetic referral: a guide for healthcare providers von Pletcher, Beth A, Toriello, Helga V, Noblin, Sarah J, Seaver, Laurie H, Driscoll, Deborah A, Bennett, Robin L, Gross, Susan J

Volltext

Spondylocarpotarsal synostosis syndrome and cervical instability von Seaver, Laurie H., Boyd, Ellen

Volltext

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome von Seaver, L H, Pierpont, J W, Erickson, R P, Donnerstein, R L, Cassidy, S B

Volltext

Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review von Hoyme, H. Eugene, Seaver, Laurie H., Jones, Kenneth Lyons, Procopio, Fortunato, Crooks, William, Feingold, Murray

Volltext

Congenital scalp defects and vitreoretinal degeneration: Redefining the Knobloch syndrome von Seaver, Laurie H., Joffe, Leonard, Spark, Ronald P., Smith, Barbara L., Hoyme, H. Eugene

Volltext

Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors von Seaver, Laurie H., Grimes, Judy, Erickson, Robert P.

Volltext

Neural tube defects and associated anomalies in South Carolina von Stevenson, Roger E., Seaver, Laurie H., Collins, Julianne S., Dean, Jane H.

Volltext

New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies von Seaver, Laurie H., Cassidy, Suzanne B.

Volltext

Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4 von Siddiqui, Ajaz M., Everman, David B., Rogers, R. Curtis, DuPont, Barbara R., Smith, Brooke T., Seaver, Laurie H., Morales, Augusto, Varn, Mary, Cohen, Bruce, Traboulsi, Elias I.

Volltext

Informed consent for medical photographs von Cunniff, Christopher, Byrne, Janice L.B., Hudgins, Louanne M., Moeschler, John B., Olney, Ann Haskins, Pauli, Richard M., Seaver, Lauri H., Stevens, Cathy A., Figone, Christopher

Volltext