230 results on '"Le Marec B"'
Search Results
2. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
3. Identification of the gene for Oral-facial-digital type I syndrome (OFD1)
4. Heterozygous PITX2/RIEG1 gene deletion associated with GH deficiency in Rieger syndrome
5. Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1
6. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy
7. Identification of the Gene for Oral-Facial-Digital Type I Syndrome
8. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome
9. Magnetic resonance imaging in Pelizaeus-Merzbacher disease
10. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia
11. [Spontaneous abortion of male fetuses with incontinentia pigmenti (apropos of a family)]
12. A new mutation in the six-domain of SIX3 gene causes holoprosencephaly
13. Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly
14. Incidence de la mucovtscidose en bretagne évaluée par 10 ans de dépistage néonatal
15. Atteinte pancreatique et syndrome de cornelia de lange: Complication ou coincidence ?
16. Deux cas de chondrodysplasie ponctuee brachytelephalangique compliquee d'instabilite occipito-atloidienne
17. L'HYPOMELANOSE DE ITO (à propos de 3 cas)
18. Compression médullaire dans la maladie des épiphyses ponctuées: à propos de deux observations pédiatriques
19. Deux enfants normaux dés après grossesse spontanée de mère turnérieune
20. A propos de 10 cas de diagnostic prénatal d'agénésie du corps calleux. (Quelle conduite adopter ?)
21. Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)
22. P75 Incontinentia pigmenti a revelation neo-natale: Discussion d'une prise en charge therapeutique
23. Coqueluche et adénovirose : association dans une bronchiolite grave du nourrisson
24. Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.
25. Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred.
26. Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.
27. Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases
28. SHFM3 is associated with a genomic rearrangement in 10q24
29. [Comparative study of the administration of amikacin by intramuscular and intravenous routes in neonatal resuscitation]
30. Genetic counselling in unexpected familial recurrence of achondroplasia
31. Atelosteogenesis
32. Dizygotic twinning in mothers of spina bifida
33. MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial-limb disruption sequence?
34. CSF ascorbic acid and lactate levels after neonatal asphyxia: preliminary results.
35. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
36. Prader-Willi syndrome and polygonosomal abnormalities in males:about a Prader-Willi/47,XYY patient.
37. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
38. Gastric carcinoma in Sotos syndrome (cerebral gigantism).
39. Segregation analysis in nonsyndromic holoprosencephaly.
40. Mapping of a congenital microcoria locus to 13q31-q32.
41. Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.
42. Opitz GBBB syndrome: chromosomal evidence of an X-linked form.
43. Remarks about the prognosis in case of antenatal diagnosis of gastroschisis.
44. [Doppler echocardiography in the evaluation of volume expansion effects in newborn infants].
45. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.
46. A case of Larsen syndrome with severe cervical malformations.
47. [Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].
48. Fine mapping of the human SCIDX1 locus at Xq12-13.1.
49. Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.
50. [Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].
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