Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Filter bei nächster Suche beibehalten
topic_facet:"Case Reports"
journalStr:"BMC medical genetics"
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?filter%5B%5D=topic_facet%3A%22Case+Reports%22&filter%5B%5D=journalStr%3A%22BMC+medical+genetics%22&lookfor=%22Humans%22&type=Subject
/vufind/Search/Results?filter%5B%5D=topic_facet%3A%22Case+Reports%22&filter%5B%5D=journalStr%3A%22BMC+medical+genetics%22&lookfor=%22Humans%22&type=Subject
Search /vufind/Search2/Results?filter%5B%5D=topic_facet%3A%22Case+Reports%22&filter%5B%5D=journalStr%3A%22BMC+medical+genetics%22&lookfor=%22Humans%22&type=Subject
PubPharm (375)
1
DGAT1 mutations leading to delayed chronic diarrhoea : a case report
enthalten in:
BMC medical genetics
| 2020
von
Xu, L.
|
Gu, W.
|
Luo, Y.
| +2
Wird geladen...
2
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient
enthalten in:
BMC medical genetics
| 2020
von
Zhang, C.
|
Deng, X.
|
Wen, Y.
| +3
Wird geladen...
3
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report
enthalten in:
BMC medical genetics
| 2020
von
Weisschuh, N.
|
Mazzola, P.
|
Heinrich, T.
| +4
Wird geladen...
4
Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene : a case report
enthalten in:
BMC medical genetics
| 2020
von
Lucaccioni, L.
|
Righi, B.
|
Cingolani, G.
| +5
Wird geladen...
5
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis : a case report
enthalten in:
BMC medical genetics
| 2020
von
Chai, S.
|
Jiao, R.
|
Sun, X.
| +3
Wird geladen...
6
Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene : a case report
enthalten in:
BMC medical genetics
| 2020
von
Wang, Y.
|
Chen, Y.
|
Wang, S.
| +3
Wird geladen...
7
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia : case report
enthalten in:
BMC medical genetics
| 2020
von
Rocca, M.
|
Piatti, G.
|
Michelucci, A.
| +6
Wird geladen...
8
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder : case report
enthalten in:
BMC medical genetics
| 2020
von
Schultz-Rogers, L.
|
Muthusamy, K.
|
Pinto E Vairo, F.
| +2
Wird geladen...
9
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
enthalten in:
BMC medical genetics
| 2020
von
Ni, X.
|
Jin, C.
|
Jiang, Y.
| +4
Wird geladen...
10
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy : a case report
enthalten in:
BMC medical genetics
| 2020
von
Marakhonov, A.
|
Mishina, I.
|
Kadyshev, V.
| +7
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[38]
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
Alle gewählten Filter entfernen
Filter aufheben
Thema: Case Reports
Filter aufheben
Zeitschrift: BMC medical genetics
Medienart
375
Aufsätze
375
E-Artikel
375
E-Ressourcen
Zeitschriftentitel
BMC medical genetics
Thema
Case Reports
375
Journal Article
231
Research Support, Non-U.S. Gov't
49
Case report
25
Codon, Nonsense
21
Membrane Proteins
21
Review
19
Research Support, N.I.H., Extramural
18
EC 2.7.11.1
18
Mutation
17
DNA-Binding Proteins
16
9007-49-2
16
DNA
14
Whole exome sequencing
12
EC 3.6.1.-
12
Nuclear Proteins
11
Nerve Tissue Proteins
11
Tumor Suppressor Proteins
11
Vesicular Transport Proteins
11
Whole-exome sequencing
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
71
2020-
288
2010-2019
16
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
375
Englisch
Haven't found what you're looking for?
Wird geladen...