Weiter zum Inhalt
Toggle navigation
English
English
Favoritenliste (
0
)
(Voll)
Kontakt
Mein Konto
Abmeldung
Mein Konto
Suche
Filter bei nächster Suche beibehalten
journalStr:"American journal of medical genetics. Part A"
Erweiterte Suche
Suchverlauf
Struktursuche
Narrative Service
Drug Overviews
Info Guide
/vufind/Search/Results?lookfor=%22Case+Reports%22&type=Subject&filter%5B%5D=journalStr%3A%22American+journal+of+medical+genetics.+Part+A%22
/vufind/Search/Results?lookfor=%22Case+Reports%22&type=Subject&filter%5B%5D=journalStr%3A%22American+journal+of+medical+genetics.+Part+A%22
Search /vufind/Search2/Results?lookfor=%22Case+Reports%22&type=Subject&filter%5B%5D=journalStr%3A%22American+journal+of+medical+genetics.+Part+A%22
PubPharm (5.614)
1
Monodactyly in a patient with CHARGE syndrome : An additional case report
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Serigatto, H.
|
Zechi-Ceide, R.
|
Parizotto, I.
| +1
Wird geladen...
2
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
enthalten in:
American journal of medical genetics. Part A
| 2024
von
De Bortoli, M.
|
Ivars, M.
|
Revencu, N.
| +10
Wird geladen...
3
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder : A case report and review of the literature
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Politano, D.
|
D'Abrusco, F.
|
Pasca, L.
| +10
Wird geladen...
4
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Cai, Q.
|
Feng, F.
|
Tian, Y.
| +5
Wird geladen...
5
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Forghani, I.
|
Lang, S.
|
Rodier, M.
| +106
Wird geladen...
6
RMRP-related short stature : A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Uchida, N.
|
Ishii, T.
|
Nishimura, G.
| +9
Wird geladen...
7
Expanding the phenotype of UPF3B-related disorder : Case reports and literature review
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Romano, F.
|
Haanpää, M.
|
Pomianowski, P.
| +11
Wird geladen...
8
Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Meier-Abt, F.
|
Kraemer, D.
|
Braun, N.
| +4
Wird geladen...
9
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Bach, M.
|
Miron, S.
|
Kurolap, A.
| +1
Wird geladen...
10
SMAD4 mosaicism in juvenile polyposis : Essential contribution of somatic analysis in diagnosis
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Vautier, S.
|
Mauillon, J.
|
Parodi, N.
| +5
Wird geladen...
1
2
3
4
5
6
7
8
9
10
11
Nächster »
[562]
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
Zeitschrift: American journal of medical genetics. Part A
Medienart
5.614
Aufsätze
4.189
E-Artikel
4.189
E-Ressourcen
1.425
Gedruckte Aufsätze
Zeitschriftentitel
American journal of medical genetics. Part A
Thema
5.614
Case Reports
4.476
Journal Article
1.893
Research Support, Non-U.S. Gov't
631
Review
438
Research Support, N.I.H., Extramural
420
Letter
251
Transcription Factors
197
intellectual disability
159
DNA-Binding Proteins
138
Nuclear Proteins
126
Membrane Proteins
116
Homeodomain Proteins
113
Nerve Tissue Proteins
110
9007-49-2
110
DNA
105
Repressor Proteins
102
EC 2.7.10.1
98
Comparative Study
97
EC 2.7.11.1
91
Carrier Proteins
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
653
2020-
2.579
2010-2019
2.102
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
5.614
Englisch
Haven't found what you're looking for?
Wird geladen...