Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aparna K.R. Nambisan"'
Autor:
Ved Bhushan Arya, Ekaterini Vamvakiti, Tony Hulse, Michal Ajzensztejn, Nadia Muhi-Iddin, Aparna K.R. Nambisan, Garima Chawla, Ritika R. Kapoor, Charles R. Buchanan, Clare Ferreira Pinto, Susan Bint, Nayana Lahiri
Publikováno v:
Hormone Research in Paediatrics. 92:382-389
Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a459fc046a6e19ab23d37c7d8e4f6847
https://doi.org/10.1159/000503784
https://doi.org/10.1159/000503784
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5781b46560eddf1a58cb2b2be5180e2
https://doi.org/10.1530/endoabs.51.p043
https://doi.org/10.1530/endoabs.51.p043
Autor:
Marie Castro-Gonzalez, Aparna K.R. Nambisan, Amy Rowland, Simon Chapman, Tony Hulse, Ahmed Shamekh, Hannah Morrow, Michal Ajzensztejn, Martha Ford-Adams, Samantha Fredriksen, Joanna Lawrence
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0ea4fae2c2025242b39cdbf95c1c592
https://doi.org/10.1530/endoabs.51.oc7.7
https://doi.org/10.1530/endoabs.51.oc7.7
Autor:
Arya, Ved Bhushan, Chawla, Garima, Nambisan, Aparna K.R., Muhi-Iddin, Nadia, Vamvakiti, Ekaterini, Ajzensztejn, Michal, Hulse, Tony, Ferreira Pinto, Clare, Lahiri, Nayana, Bint, Susan, Buchanan, Charles R., Kapoor, Ritika R.
Publikováno v:
Hormone Research in Paediatrics; 2019, Vol. 92 Issue 6, p382-389, 8p, 1 Black and White Photograph, 2 Charts, 1 Graph