Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Darrell J. Tomkins"'
Autor:
Maria J. Santana, Darrell J. Tomkins
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-6 (2021)
Abstract Introduction The patient is the person who experiences both the processes and the outcomes of care. Information held by the patient is vital for clinical and self-management, improving health outcomes, delivery of care, organization of healt
Externí odkaz:
https://doaj.org/article/ae826c0eeae14af8aaa289f3a87bfd00
Autor:
Maria J. Santana, Darrell J. Tomkins
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/9d352eb71ed4430fa962b2146169b98a
Autor:
Darrell J. Tomkins, Maria J. Santana
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-2 (2021)
Autor:
Darrell J. Tomkins, Maria J. Santana
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-6 (2021)
Journal of Patient-Reported Outcomes
Journal of Patient-Reported Outcomes
Introduction The patient is the person who experiences both the processes and the outcomes of care. Information held by the patient is vital for clinical and self-management, improving health outcomes, delivery of care, organization of health systems
Publikováno v:
Clinical Genetics. 22:348-355
A 10-year-old boy with developmental delay, craniofacial dysmorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 leads to qter) of the long arm of a chromosome 4. The cli
Autor:
Eric J. Stanbridge, Darrell J. Tomkins, Martin J. Somerville, Lisa D. McDaniel, Errol C. Friedberg, Roger A. Schultz
Publikováno v:
The American Journal of Human Genetics. 77:132-139
Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. Most patients with RS exhibit characteristic cytogenetic phenotypes, which include an abnormal appearance of peri
Autor:
Darrell J. Tomkins, David Feeny
Publikováno v:
Expert Review of Pharmacoeconomics & Outcomes Research. 4:207-213
The objectives of this review include the conceptualization of the health-related quality of life effects of prenatal diagnosis and a brief summary of evidence on the short- and long-term effects of prenatal diagnosis on the health-related quality of
Autor:
J Brown, D. Wickstrom, I. Chudoba, Albert E. Chudley, Darrell J. Tomkins, D. Riordan, A. J. Dawson, A. Vust
Publikováno v:
Clinical Genetics. 61:277-282
A 7-year-old female was referred to the Genetics Clinic because of developmental delay and attentional difficulty. The patient was adopted and there was a nonspecific prenatal history of drug and alcohol abuse. The patient had clinical signs that wer
Publikováno v:
European Journal of Human Genetics. 10:44-51
A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X c
Autor:
Jennifer A. Ramsay, Darrell J. Tomkins, John Woulfe, Małgorzata J.M. Nowaczyk, Elena Belloni, Stephen W. Scherer, Elena Rossi, Marlene Huggins
Publikováno v:
Clinical Genetics. 57:388-393
We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat. The chromosomal abnormality was diagnosed prenatally afte