Results 141 to 150 of about 58,780 (225)

Journalismus und Presse im Film : eine Filmographie [PDF]

, 2010
Journalismus und Presse im Film: Eine Filmographie.
Wulff, Hans Jürgen
core  

Barnes Hospital Bulletin [PDF]

, 1984
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1221/thumbnail ...

core   +1 more source

Uniparental Disomy and Genomic Imprinting in Humans [PDF]

, 2017
Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans.
Schinzel, A.
core  

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

BMC Pediatrics
Background Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis).
Amal M. Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M. H. Abdel-Salam, Hala T. El-Bassyouni, Mahmoud Essa, Rana Mahrous, Peter S. F. Erian, Khaled M. Refaat, Alaaeldin Fayez, Maha Zaki   +11 more
doaj   +1 more source

Use of Nasonia vitripennis to Evaluate Genomic Imprinting and Haplodiploid Inheritance [PDF]

, 2013
During fertilization, male and female gametes fuse and a diploid organism is generated. However, in some cases, not all of the genes from a parental genome are expressed.
Fisher, Carolyn
core   +1 more source

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Nature Reviews Endocrinology, 2017
E. Wakeling, F. Brioude, O. Lokulo-Sodipe, S. O’Connell, J. Salem, J. Bliek, A. Canton, K. Chrzanowska, J. Davies, R. Dias, B. Dubern, M. Elbracht, É. Giabicani, A. Grimberg, K. Grønskov, A. Hokken-Koelega, A. Jorge, M. Kagami, A. Linglart, M. Maghnie, K. Mohnike, D. Monk, G. Moore, P. Murray, T. Ogata, I. Petit, S. Russo, E. Said, M. Toumba, Z. Tümer, G. Binder, T. Eggermann, M. Harbison, K. Temple, D. Mackay, I. Netchine   +35 more
semanticscholar   +1 more source

[The Silver-Russell syndrome].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1994
The authors describe a case of Silver-Russell Syndrome with severe deficit growth. They display the major and minor features of the syndrome, and discuss about the possible pathogenetic causes.
B, Spano, F, Cossu, R, Oggiano, M G, Olzai, A, Balata   +4 more
openaire   +1 more source

Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial [PDF]

, 1999
The growth-promoting effect of continuous GH treatment was evaluated over 5 yr in 79 children with short stature (height SD score, less than -1.88) born small for gestational age (SGA; birth length SD score, less than -1.88).
Hokken-Koelega, A.C.S. (Anita), Houdijk, M., Jansen, M. (Maarten), Mulder, P.G.H. (Paul), Reeser, M. (Maarten), Sas, T.C.J. (Theo), Waal, W.J. (Wouter) de   +6 more
core  

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

Journal of Pediatrics Review, 2019
Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life.
Rahim Vakili, Somayyeh Hashemian
doaj  

[The Silver-Russel syndrome].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1992
The authors report a case of Silver-Russel syndrome with severe deficit growth observed since intrauterine life. They describe the major features, that are constant and the minor features, that are variable and numerous. The features not always are present at birth. The A. exclude in this case a genetic cause and suggest a possible motherly cause.
M, Sarotti, C, Zilocchi, P, Bianchi, C, Faraci, C, Marenzi, D, Martinelli, R, Escobar   +6 more
openaire   +1 more source