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A S Plomp

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Clinical Dysmorphology|January 29, 2000
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?A S Plomp, M Baraitser, S F Slaney, et al.
Journal of Medical Genetics|July 25, 1998
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3)A S Plomp, J J Engelen, J C Albrechts, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 13, 2002
[Changing perception of hereditary eye diseases]A S Plomp, A A B Bergen, C A A Hulsman, et al.
Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.
Nederlands Tijdschrift Voor Geneeskunde|September 24, 2004
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]A A B Bergen, A S Plomp, T G M F Gorgels, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literatureA S Plomp, C T Schrander-Stumpel, J J Engelen, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriersA S Plomp, C E De Die-Smulders, P Meinecke, et al.
The Journal of Investigative Dermatology|September 30, 2025
Letter in Response to Verschuere et alM Haverkamp, A S Plomp, J Ossewaarde-van Norel, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
American Journal of Medical Genetics|March 3, 1998
Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridizationJ J Engelen, W J Loots, J C Albrechts, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|January 29, 2000
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?A S Plomp, M Baraitser, S F Slaney, et al.
Journal of Medical Genetics|July 25, 1998
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3)A S Plomp, J J Engelen, J C Albrechts, et al.
Nederlands Tijdschrift Voor Geneeskunde|March 13, 2002
[Changing perception of hereditary eye diseases]A S Plomp, A A B Bergen, C A A Hulsman, et al.
Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.
Nederlands Tijdschrift Voor Geneeskunde|September 24, 2004
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]A A B Bergen, A S Plomp, T G M F Gorgels, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literatureA S Plomp, C T Schrander-Stumpel, J J Engelen, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1995
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriersA S Plomp, C E De Die-Smulders, P Meinecke, et al.
The Journal of Investigative Dermatology|September 30, 2025
Letter in Response to Verschuere et alM Haverkamp, A S Plomp, J Ossewaarde-van Norel, et al.
American Journal of Medical Genetics|February 25, 1998
Pfeiffer syndrome type 2: further delineation and review of the literatureA S Plomp, B C Hamel, J M Cobben, et al.
American Journal of Medical Genetics|March 3, 1998
Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridizationJ J Engelen, W J Loots, J C Albrechts, et al.
Pageof 2