Results 21 to 30 of about 752,008 (291)

Geographic variation and localised clustering of congenital anomalies in Great Britain [PDF]

, 2007
Background Environmental pollution as a cause of congenital anomalies is sometimes suspected because of clustering of anomalies in areas of higher exposure.
Grundy C, Wellesley, D, Loane, M, Dolk Helen, Rankin Judith, Loane Maria, Rankin, Judith, Stone David, Loane M, Wellesley, D., Stone, D, Abramsky L, Stone, David, Pattenden, S., Armstrong, B.G., Dunn, C.E., Pattenden S, Armstrong BG, Armstrong, Ben G, Dolk, H, Dolk, H., Armstrong Ben G, Grundy, C., Boyd Patricia A, Boyd, Patricia A, Armstrong, B, Rankin, J., Boyd, P, Dunn, Chris E, Dunn CE, Loane, M., Wellesley, Diana, Boyd PA, Vrijheid, M., Stone, D., Grundy Chris, Vrijheid Martine, Dolk H, Abramsky, L, Stone D, Abramsky, Lenore, Abramsky Lenore, Vrijheid M, Grundy, C, Vrijheid, Martine, Grundy, Chris, Dolk, Helen, Boyd, P.A., Pattenden Sam, Wellesley Diana, Pattenden, Sam, Wellesley D, Dunn Chris E, Abramsky, L., Dunn, C, Pattenden, S, Boyd, P., Loane, Maria, Rankin J, Rankin, J   +59 more
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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
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Laparoscopic Cervico Vaginal Reconstruction Using Sigmoid Graft in Patients with Cervicovaginal Agenesis and Functional Uterus: A Case Report for the First Time in the World [PDF]

مجله علوم پزشکی صدرا, 2021
Introduction:.Various methods have been proposed to treat Cervicovaginal agenesis with the functional uterus, but unfortunately, some of these methods eventually lead to a hysterectomy.
Saeed Alborzi, Elham Askari
doaj   +1 more source

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [PDF]

, 2010
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs).
Hudson H. Freeze, Silhavy, J.L., Christian R.H. Raetz, Al-Gazali, Lihadh, Swistun, Dominika, Dusica Babovic-Vuksanovic, Guan, Z., Blümel, Peter, Sykut-Cegielska, J., Hans van Bokhoven, Bokhoven, J.H.L.M. van, Ludwig Lehle, Lehle, Ludwig, Wevers, R.A., Al-Gazali, L., Houliston, S., Dobyns, W.B., Bassam R. Ali, Lefeber, D.J., Ali, Bassam R., Raetz, Christian R.H., Dirk J. Lefeber, Guan, Ziqiang, Ron A. Wevers, Hans Hombauer, Maciej Adamowicz, Jolanta Sykut-Cegielska, Stephanie L. Bielas, Ng, B.G., Freeze, H.H., Ewa Swiezewska, Wevers, Ron A., William B. Dobyns, Gleeson, Joseph G., Bobby G. Ng, Cantagrel, Vincent, Ng, Bobby G., Swiezewska, Ewa, Lefeber, Dirk J., De Brouwer, Arjan P., Houliston, Scott, Adamowicz, M., Silhavy, Jennifer L., Lihadh Al-Gazali, Ziqiang Guan, Éva Morava, Dobyns, William B., Adamowicz, Maciej, Morava, E., Babovic-Vuksanovic, Dusica, Raetz, C.R., Vincent Cantagrel, Lehle, L., Hombauer, H., Scott Houliston, Freeze, Hudson H., Jennifer L. Silhavy, Swistun, D., Blumel, P., Babovic-Vuksanovic, D., Cantagrel, V., Gleeson, J.G., Peter Blümel, Sykut-Cegielska, Jolanta, Arjan P. De Brouwer, Morava, Éva, Joseph G. Gleeson, Brouwer, A.P.M. de, van Bokhoven, Hans, Swiezewska, E., Hombauer, Hans, Dominika Swistun, Bielas, S.L., Ali, B.R., Bielas, Stephanie L.   +74 more
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Anomalous Retro-Psoas Iliac Artery: A Case Report

대한영상의학회지, 2020
The anomalous retro-psoas iliac artery is an extremely rare congenital iliolumbar vascular anomaly. A 51-year-old woman presented to our emergency department with worsening right lower extremity pain and weakness for 3 months.
Beum Jin Kim, Youngjun Kim
doaj   +1 more source

A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis [PDF]

Asian Spine Journal, 2016
Study DesignRetrospective study.PurposeTo identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis.Overview of LiteratureCongenital and idiopathic scoliosis (IS) are ...
Evin Bozcali, Hanifi Ucpunar, Ahmet Sevencan, Mehmet Bulent Balioglu, Akif Albayrak, Veli Polat   +5 more
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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

The Turkish Journal of Pediatrics, 2017
Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak   +8 more
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Paracellin-1 gene mutation with multiple congenital abnormalities [PDF]

, 2006
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure.
Kavukçu, Salih, Böber, Ece, Konrad, Martin, Türkmen, Mehmet, Kasap, Belde, Soylu, Alper   +5 more
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The Embryology Resource Page (Out of Print)

MedEdPORTAL, 2006
This educational website contains a number of valuable resources on the topic of embryology. PowerPoint presentations, online lectures, notes, and links to additional reference websites are provided.
Thomas Marino
doaj   +1 more source

Aetiological Factors in Congenital Abnormalities [PDF]

, 2013
The problem of congenital abnormalities has been with us for many years. The surviving records of some of the oldest civilisations depict cases of congenital malformations.
Davidson, Alexander M.
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