Dominant-negative diabetes insipidus and other endocrinopathies

Yazar: Phillips, John A.
Baskı/Yayın Bilgisi 2003

GENETIC AND OTHER HEALTH PROBLEMS ASCERTAINED IN FAMILIES OF THE DAUGHTERS OF THE AMERICAN REVOLUTION

Yazar: Butler, Merlin G, Babe, Kenneth S., Phillips, John A.
Yayımlandı Dysmorphol Clin Genet (1991)

Analysis of 13q RFLP in Multiple Endocrine Neoplasia Type II Kindreds

Yazar: DESCHAMPS, MARGUERITE, BUTLER, MERLIN G., PHILLIPS, JOHN A.
Yayımlandı Cancer Genet Cytogenet (1987)

Genetics of Pulmonary Arterial Hypertension

Yazar: Austin, Eric D., Loyd, James E., Phillips, John A.
Baskı/Yayın Bilgisi 2009

A novel SHOC2 variant in Rasopathy

Yazar: Hannig, Vickie, Jeoung, Myoungkun, Jang, Eun Ryoung, Phillips, John A., Galperin, Emilia
Baskı/Yayın Bilgisi 2014

High Resolution Chromosome and DNA Analysis in Multiple Endocrine Neoplasia Type II Syndrome

Yazar: Butler, Merlin G., Repaske, David R., Joseph, Geeta M., Phillips, John A.
Yayımlandı Cancer Genet Cytogenet (1987)

Growth Hormone Deficiency and Splicing Fidelity: TWO SERINE/ARGININE-RICH PROTEINS, ASF/SF2 AND SC35, ACT ANTAGONISTICALLY

Yazar: Solis, Amanda S., Peng, Rui, Crawford, J. Barrett, Phillips, John A., Patton, James G.
Baskı/Yayın Bilgisi 2008

Mutation Analysis of the Muscarinic Cholinergic Receptor Genes in Isolated Growth Hormone Deficiency Type IB

Yazar: Mohamadi, Ali, Martari, Marco, Holladay, Cindy D., Phillips, John A., Mullis, Primus E., Salvatori, Roberto
Baskı/Yayın Bilgisi 2009

Analysis of Immunoglobulin Heavy Chain Restriction Fragment Length Polymorphisms in IgA Nephropathy

Yazar: Julian, Bruce A., Phillips, John A., Orlando, Pamela J., Wyatt, Robert J., Butler, Merlin G.
Yayımlandı Semin Nephrol (1987)

Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNA Interference

Yazar: Shariat, Nikki, Ryther, Robin C. C., Phillips, John A., Robinson, Iain C. A. F., Patton, James G.
Baskı/Yayın Bilgisi 2008

Brief Clinical Report and Review: Two Patients With Ring Chromosome 15 Syndrome

Yazar: Butler, Merlin G., Fogo, Agnes B., Fuchs, David A., Collins, Francis S., Dev, Viathilingam G., Phillips, John A.
Yayımlandı Am J Med Genet (1988)

FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION

Yazar: Strakowski, Stephen M., Butler, Merlin G., Cheek, James W., Moore, William T., Netterville, James L., Phillips, John A.
Yayımlandı Dysmorphol Clin Genet (1988)

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

Yazar: Parry, Erin M, Alder, Jonathan K, Lee, Stella S, Phillips, John A, Loyd, James E, Duggal, Priya, Armanios, Mary
Baskı/Yayın Bilgisi 2011

Genetic Anticipation and Abnormal Gender Ratio at Birth in Familial Primary Pulmonary Hypertension

Yazar: LOYD, JAMES E., BUTLER, MERLIN G., FOROUD, TATIANA M., CONNEALLY, P. MICHAEL, PHILLIPS, JOHN A., NEWMAN, JOHN H.
Yayımlandı Am J Respir Crit Care Med (1995)

Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

Yazar: West, James, Cogan, Joy, Geraci, Mark, Robinson, Linda, Newman, John, Phillips, John A, Lane, Kirk, Meyrick, Barbara, Loyd, Jim
Baskı/Yayın Bilgisi 2008

Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele

Yazar: Hamid, Rizwan, Cogan, Joy D., Hedges, Lora K., Austin, Eric, Phillips, John A., Newman, John H., Loyd, James E.
Baskı/Yayın Bilgisi 2009

A case of late recurrence of Burkitt's Lymphoma presenting with abdominal masses and haematemesis

Yazar: Bong, Chin-Nam, Chen, Solomon CC, Barr, Alexander David, Yu, Kwongleung, Hsieh, Tsung-Che, Tok, Teck-Siong, Phillips, John A
Baskı/Yayın Bilgisi 2007

The Presence of Genetic Anticipation Suggests That the Molecular Basis of Familial Primary Pulmonary Hypertension May Be Trinucleotide Repeat Expansion*

Yazar: Loyd, James E., Slovis, Bonnie, Phillips, John A., Butler, Merlin G., Foroud, Tatiana M., Conneally, P. Michael, Newman, John H.
Yayımlandı Chest (1997)

Proteomics of Transformed Lymphocytes from a Family with Familial Pulmonary Arterial Hypertension

Yazar: Meyrick, Barbara O., Friedman, David B., Billheimer, D. Dean, Cogan, Joy D., Prince, Melissa A., Phillips, John A., Loyd, James E.
Baskı/Yayın Bilgisi 2008

A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

Yazar: Hamid, Rizwan, Phillips, John A., Holladay, Cindy, Cogan, Joy D., Austin, Eric D., Backeljauw, Philippe F., Travers, Sharon H., Patton, James G.
Baskı/Yayın Bilgisi 2009