Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Filter bei nächster Suche beibehalten
language:"English"
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=%22%C5%9Eimsek+Kiper%2C+Pelin+%C3%96zlem%22&type=Person&filter%5B%5D=language%3A%22English%22
/vufind/Search/Results?lookfor=%22%C5%9Eimsek+Kiper%2C+Pelin+%C3%96zlem%22&type=Person&filter%5B%5D=language%3A%22English%22
Search /vufind/Search2/Results?lookfor=%22%C5%9Eimsek+Kiper%2C+Pelin+%C3%96zlem%22&type=Person&filter%5B%5D=language%3A%22English%22
PubPharm (84)
1
Delineation of ADPRHL2 Variants : Report of Two New Patients with Review of the Literature
enthalten in:
Neuropediatrics
| 2024
von
Öz Yıldız, S.
|
Yalnızoğlu, D.
|
Şimsek Kiper, P.
| +4
Wird geladen...
2
AP-1-dependent fibrosis : Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis
enthalten in:
Pathology, research and practice
| 2024
von
Karaosmanoglu, B.
|
Imren, G.
|
Uner, M.
| +8
Wird geladen...
3
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Şimşek-Kiper, P.
|
Karaosmanoğlu, B.
|
Taşkıran, E.
| +3
Wird geladen...
4
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
enthalten in:
European journal of medical genetics
| 2024
von
Soğukpınar, M.
|
Utine, G.
|
Boduroğlu, K.
| +1
Wird geladen...
5
A rare skeletal dysplasia in the etiology of severe scoliosis : Diaphanospondylodysostosis
enthalten in:
European journal of medical genetics
| 2024
von
Daşar, T.
|
Yıldız, A.
|
Demirkıran, G.
| +2
Wird geladen...
6
Evaluation of polysomnography findings in children with genetic skeletal disorders
enthalten in:
Journal of sleep research
| 2023
von
Nayır Büyükşahin, H.
|
Emiralioglu, N.
|
Simşek Kiper, P.
| +10
Wird geladen...
7
Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks
enthalten in:
Movement disorders clinical practice
| 2023
von
Gültekin-Zaim, .
|
Yalçın-Çakmaklı, G.
|
Çolpak, A.
| +3
Wird geladen...
8
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
enthalten in:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
| 2023
von
Batkovskyte, D.
|
McKenzie, F.
|
Taylan, F.
| +29
Wird geladen...
9
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type : Further expanding the mutational spectrum and dental findings of three new patients
enthalten in:
European journal of medical genetics
| 2023
von
Akalın, A.
|
Özşin, C.
|
Koç, N.
| +6
Wird geladen...
10
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Akalın, A.
|
Şimşek-Kiper, P.
|
Taşkıran, E.
| +3
Wird geladen...
1
2
3
4
5
6
7
8
9
Nächster »
[9]
Filter & Sortierung
Treffer pro Seite
10
20
50
Sortieren
Relevanz
Neueste zuerst
Älteste zuerst
Verfasser
Zeitschriftentitel
Bibliothek
Standort (Printmedien)
Verwandte Substanzen
Verwandte Substanzen werden ermittelt...
Verwandte Erkrankungen/Symptome
Verwandte Erkrankungen/Symptome werden ermittelt...
Verwandte Gene
Verwandte Gene werden ermittelt...
Systematic Reviews
Clinical Studies
Patente
Covid-19/SARS-CoV-2
Exclude Systematic Reviews
Exclude Clinical Studies
Exclude Patents
Ihre gewählten Filter
Filter bei nächster Suche beibehalten
Filter aufheben
Sprache: Englisch
Medienart
84
Aufsätze
75
E-Artikel
75
E-Ressourcen
9
Gedruckte Aufsätze
Zeitschriftentitel
13
The Turkish journal of pediatrics
12
American journal of medical genetics. Part A
10
European journal of medical genetics
5
Molecular syndromology
4
Human mutation
3
European journal of human genetics : EJHG
3
European journal of pediatrics
2
Fetal and pediatric pathology
2
Genetics in medicine
2
Human genetics
2
Human genetics <Berlin>
2
Journal of human genetics
2
Neuropediatrics
1
American journal of human genetics
1
American journal of perinatology
1
Blood
1
Bone
1
Clinical dysmorphology
1
European journal of human genetics
1
European journal of obstetrics, gynecology, and...
Alle anzeigen ...
weniger ...
Thema
61
Journal Article
37
Case Reports
16
Research Support, Non-U.S. Gov't
6
Review
4
Central sleep apnea
4
Codon, Nonsense
4
DNA-Binding Proteins
4
Transcription Factors
4
exome sequencing
3
Carrier Proteins
3
Causative Nature
3
Down syndrome
3
Intellectual disability
3
KMT2D protein, human
3
Kabuki syndrome
3
MLL2
3
Missense Mutation
3
Missense Variant
3
Neoplasm Proteins
3
Obstructive sleep apnea
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
42
2020-
42
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
Englisch
Haven't found what you're looking for?
Wird geladen...