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/vufind/Search/Results?lookfor=%22Steffann%2C+J%22&type=Person&sort=year
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PubPharm (61)
1
What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
enthalten in:
Human reproduction (Oxford, England)
| 2024
von
Mayeur, A.
|
Magnan, F.
|
Mathieu, S.
| +5
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2
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
enthalten in:
Human reproduction (Oxford, England)
| 2021
von
Sonigo, C.
|
Mayeur, A.
|
Sadoun, M.
| +7
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3
The challenging management of a series of 43 infants with Netherton syndrome : unexpected complications and novel mutations
enthalten in:
The British journal of dermatology
| 2021
von
Bellon, N.
|
Hadj-Rabia, S.
|
Moulin, F.
| +11
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4
The challenging management of a series of 43 infants with Netherton syndrome : unexpected complications and novel mutations*
enthalten in:
British Journal of Dermatology
| 2021
von
Bellon, N.
|
Hadj‐Rabia, S.
|
Moulin, F.
| +11
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5
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti
enthalten in:
Journal of the European Academy of Dermatology and Venereology : JEADV
| 2020
von
Bodemer, C.
|
Diociaiuti, A.
|
Hadj-Rabia, S.
| +14
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6
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti
enthalten in:
Journal of the European Academy of Dermatology and Venereology
| 2020
von
Bodemer, C.
|
Diociaiuti, A.
|
Hadj‐Rabia, S.
| +14
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7
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations : a retrospective cohort study in a single tertiary centre
enthalten in:
BJOG : an international journal of obstetrics and gynaecology
| 2019
von
Kuleva, M.
|
Ben Miled, S.
|
Steffann, J.
| +5
CommentIn: BJOG. 2019 Oct;126(11):1400-1401. - PMID 30773811
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8
Postzygotic mosaicism and incontinentia pigmenti in male patients : molecular diagnosis yield
enthalten in:
The British journal of dermatology
| 2018
von
Alabdullatif, Z.
|
Coulombe, J.
|
Steffann, J.
| +2
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9
The clinical utility of PGD with HLA matching : a collaborative multi-centre ESHRE study
enthalten in:
Human reproduction (Oxford, England)
| 2018
von
Kakourou, G.
|
Kahraman, S.
|
Ekmekci, G.
| +16
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10
Lack of interaction between between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation, and leads to incontinentia pigmenti
enthalten in:
The journal of allergy and clinical immunology
| 2017
von
Bal, E.
|
Laplantine, E.
|
Hamel, Y.
| +16
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Clinical genetics
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BJOG : an international journal of obstetrics a...
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126880-72-6
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CFTR protein, human
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Cystic Fibrosis Transmembrane Conductance Regul...
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DNA
3
FMR1 protein, human
3
Fragile X Mental Retardation Protein
2
Comparative Study
2
EC 7.1.1.2
2
Electron Transport Complex I
2
Mitochondrial DNA
2
Repressor Proteins
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Xq25 duplication
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