Clinical Dysmorphology
Journal
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Overview
publication venue for
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Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
26:117-120.
2017
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Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.
25:128-132.
2016
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Correspondence.
21:109-111.
2012
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Blepharophimosis-ptosis-epicanthus inversus syndrome plus.
21:48-52.
2012
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Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype.
20:200-204.
2011
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An uncommon 3.4-Mb interstitial deletion at 3q29.
19:133-136.
2010
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A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred.
18:158-159.
2009
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Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome.
18:149-150.
2009
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Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?.
18:160-163.
2009
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Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
18:63-66.
2009
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Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate.
17:75-76.
2008
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Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome?.
13:95-98.
2004
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Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1).
11:87-90.
2002
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Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?.
7:263-268.
1998
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