skip to main content
Language:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Simple Search
Results 1 2 3 4 5 next page
Show only
Refined by: subject: Life Sciences & Biomedicine remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
Material Type:
Article 		Add to e-Shelf

18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family

Zannolli, R. ; Pierluigi, M. ; Pucci, L. ; Lagrasta, N. ; Gasparre, O. ; Matera, M.R. ; Di Bartolo, R.M. ; Mazzei, M.A. ; Sacco, P. ; Miracco, C. ; de Santi, M.M. ; Aitiani, P. ; Cavani, S. ; Pellegrini, L. ; Fimiani, M. ; Alessandrini, C. ; Galluzzi, P. ; Livi, W. ; Gonnelli, S. ; Terrosi‐Vagnoli, P. ; Zappella, M. ; Morgese, G.

American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199 [Peer Reviewed Journal]

New York: Wiley Subscription Services, Inc., A Wiley Company

Full text available

Citations Cited by
2
2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology
2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology
Material Type:
Article 		Add to e-Shelf

2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology

Epstein, Richard J. ; Tian, Li Jun ; Gu, Yan Fei Singh, Chandra ; Chandra Singh

Journal of oncology, 2021, Vol.2021, p.9955456-16 [Peer Reviewed Journal]

Egypt: Hindawi

Full text available

Citations Cited by
3
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis
Material Type:
Article 		Add to e-Shelf

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis

Leupold, D ; Bojasch, M ; Jakobs, C

European journal of pediatrics, 1982-02, Vol.138 (1), p.73-76 [Peer Reviewed Journal]

Germany

Full text available

Citations Cited by
4
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
Material Type:
Article 		Add to e-Shelf

3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring

Abeliovich, Dvorah ; Yagupsky, Pablo ; Bashan, Nava ; Opitz, John M.

American journal of medical genetics, 1982-05, Vol.12 (1), p.83-89

New York: Wiley Subscription Services, Inc., A Wiley Company

Full text available

Citations Cited by
5
3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
Material Type:
Article 		Add to e-Shelf

3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome

Hoo, Joe J. ; Kreiter, Mary ; Halverson, Nancy ; Perszyk, Anthony

American journal of medical genetics, 1994-08, Vol.52 (1), p.66-69

New York: Wiley Subscription Services, Inc., A Wiley Company

Full text available

Citations Cited by
6
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease
Material Type:
Article 		Add to e-Shelf

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Kague, Erika ; Turci, Francesco ; Newman, Elis ; Yang, Yushi ; Brown, Kate Robson ; Aglan, Mona S ; Otaify, Ghada A ; Temtamy, Samia A ; Ruiz-Perez, Victor L ; Cross, Stephen ; Royall, C Patrick ; Witten, P Eckhard ; Hammond, Chrissy L

Bone research, 2021-08, Vol.9 (1), p.39-39 [Peer Reviewed Journal]

China: Springer Nature B.V

Full text available

Citations Cited by
7
3D surface accuracy of CAD generated skull defect contour
3D surface accuracy of CAD generated skull defect contour
Material Type:
Conference Proceeding 		Add to e-Shelf

3D surface accuracy of CAD generated skull defect contour

Winder, R J ; McKnight, W ; McRitchie, I ; Montgomery, D ; Wulf, J

Studies in health technology and informatics, 2006, Vol.119, p.574-576 [Peer Reviewed Journal]

Netherlands

Full text available

Citations Cited by
8
6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?
6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?
Material Type:
Article 		Add to e-Shelf

6.5-mm human embryo with a single nasal placode: Cyclopia or hypotelorism?

Vermeij-Keers, Christl ; Poelmann, Rob E. ; Smits-Van Prooije, Annette E.

Teratology (Philadelphia), 1987-08, Vol.36 (1), p.1-6

New York: Wiley Subscription Services, Inc., A Wiley Company

Full text available

Citations Cited by
9
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder
7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder
Material Type:
Article 		Add to e-Shelf

7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder

Castiglia, L. ; Husain, R. A. ; Marquardt, I. ; Fink, C. ; Liehr, T. ; Serino, D. ; Elia, M. ; Coci, E. G.

Journal of intellectual disability research, 2018-05, Vol.62 (5), p.359-370 [Peer Reviewed Journal]

England: Wiley Subscription Services, Inc

Full text available

Citations Cited by
10
A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys
Material Type:
Article 		Add to e-Shelf

A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneys

Chen, Chih-Ping ; Tzen, Chin-Yuan ; Chern, Schu-Rern ; Tsai, Fuu-Jen ; Hsu, Chin-Yuan ; Lee, Chen-Chi ; Lee, Meng-Shan ; Pan, Chen-Wen ; Wang, Wayseen

European journal of medical genetics, 2009-01, Vol.52 (1), p.59-61 [Peer Reviewed Journal]

Amsterdam: Elsevier Masson SAS

Full text available

Citations Cited by
Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (1,744)

Refine My Results

Resource Type 

  1. Articles  (2,044)
  2. Conference Proceedings  (1)
  3. Books  (1)
  4. Book Chapters  (1)
  5. More options open sub menu

Creation Date 

From To
Refine
  1. Before1965  (36)
  2. 1965To1978  (157)
  3. 1979To1992  (486)
  4. 1993To2007  (635)
  5. After 2007  (736)
  6. More options open sub menu

Language 

  1. English  (2,027)
  2. Japanese  (312)
  3. French  (10)
  4. German  (7)
  5. Spanish  (5)
  6. Portuguese  (3)
  7. Polish  (1)
  8. Italian  (1)
  9. Norwegian  (1)
  10. Turkish  (1)
  11. More options open sub menu

  • Implemented by: ABCD-USP USP   Social Network Logos: Freepik

Searching Remote Databases, Please Wait

  • Searching for
  • inscope:(USP_VIDEOS),scope:("PRIMO"),scope:(USP_FISICO),scope:(USP_EREVISTAS),scope:(USP),scope:(USP_EBOOKS),scope:(USP_PRODUCAO),primo_central_multiple_fe
  • Show me what you have so far