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1 uman chromosome 2 causes a severe congenital limb malformation.
2 em symptoms but an absence of frontonasal or limb malformations.
3  mechanisms at the basis of the SHFM and EEC limb malformations.
4 dromic hearing loss, craniofacial defects or limb malformations.
5 birth defects including renal, ear, anal and limb malformations.
6 asis of common congenital heart diseases and limb malformations.
7 ctional interpretation of genetic studies of limb malformations.
8 ion mainly characterized by craniofacial and limb malformations.
9 hand" disorders, with a combination of upper limb malformations and cardiac defects.
10 Holt-Oram syndrome is characterized by upper limb malformations and cardiac septation defects.
11 nal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dy
12 l ectodermal ridge (AER), are known to cause limb malformations and evolutionary differences in limb
13 elopmental abnormalities, dysmorphic facies, limb malformations and mental retardation.
14  T-box3 in development are evident by severe limb malformations and other birth defects caused by T-b
15             CRISPR/Cas9 targeting replicated limb malformations and renal cysts identical to the mode
16                  We show that distinct human limb malformations are caused by deletions, inversions,
17 timing of anomalies such as external ear and limb malformations are well established in the thalidomi
18  Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at
19 malities; others might cause extensive upper limb malformations but less significant cardiac abnormal
20 g237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormal
21 polydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene
22 y (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the ha
23 melia syndrome are considered to be distinct limb-malformation disorders characterized by various deg
24 iled-1 gene (EN1) in patients with a complex limb malformation featuring mesomelic shortening, syndac
25 er characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation.
26 Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter th
27 (-/-) mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss.
28 evolution, acquired regeneration capacity or limb malformations in diverse species, including humans.
29 ning transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrom
30 of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydact
31 terized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, int
32                                  Other lower-limb malformations, including patellar hypoplasia, obliq
33 Split-hand/split-foot malformation (SHFM), a limb malformation involving the central rays of the auto
34 l brain injury, early sensory deprivation or limb malformation may result in atypical functional orga
35 e, to a large degree, many of the congenital limb malformations observed in the fetuses of dams admin
36 y, and only 2 of 20 individuals had heart or limb malformations of the severity predicted by the loca
37                                    Inherited limb malformations provide a valuable resource for the i
38                                   Congenital limb malformations rank behind only congenital heart dis
39 riggers apoptotic cell death, resulting in a limb malformation resembling human ectrodactyly.
40 olydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh
41 an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocogniti
42 ons in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD).
43                    Synpolydactyly (SPD) is a limb malformation that shows a characteristic manifestat
44 AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog si
45                                           No limb malformations were observed in control fetuses.