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1 . Academic Journal
Sensitivity and specificity of heat and moisture exchange filters sampling for SARS-CoV-2 detection in mechanically ventilated COVID-19 patients
저자
by
Kamel, Toufik
;
Guillaume, Clémence
;
Muller, Grégoire
;
Baala, Lekbir
;
Boulain, Thierry
.
소스
In
Journal of Microbiology, Immunology and Infection
December 2022 55(6) Part 1:1122-1125
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7 . Academic Journal
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
저자
by
Chafai-Elalaoui, Siham
;
Chalon, Matthias
;
Elkhartoufi, Nadia
;
Kriouele, Yamna
;
Mansouri, Maria
, et al.
소스
Journal of Medical Case Reports
. 11/5/2015, Vol. 9, p1-5. 5p.
Open Access (BioMed Central)
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7 . Academic Journal
Spectrum of MKS1 and MKS3 Mutations in Meckel Syndrome: A Genotype-Phenotype Correlation
저자
by
Khaddour, Rana
;
Smith, Ursula
;
Baala, Lekbir
;
Martinovic, Jéléna
;
Clavering, Davina
, et al.
소스
Human Mutation
. May 01, 2007 28(5):523-524
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7 . Academic Journal
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome.
저자
by
Baala, Lekbir
;
Audollent, Sophie
;
Martinovic, Jéléna
;
Ozilou, Catherine
;
Babron, Marie-Claude
, et al.
소스
American Journal of Human Genetics
. Jul2007, Vol. 81 Issue 1, p170-179. 10p. 1 Diagram, 1 Chart, 1 Graph.
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7 . Academic Journal
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
저자
by
Delous, Marion
;
Baala, Lekbir
;
Salomon, Rémi
;
Laclef, Christine
;
Vierkotten, Jeanette
, et al.
소스
Nature Genetics
. Jul2007, Vol. 39 Issue 7, p875-881. 7p. 3 Diagrams, 1 Chart, 2 Graphs.
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7 . Academic Journal
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome.
저자
by
Baala, Lekbir
;
Romano, Stéphane
;
Khaddour, Rana
;
Saunier, Sophie
;
Smith, Ursula M.
, et al.
소스
American Journal of Human Genetics
. Jan2007, Vol. 80 Issue 1, p186-194. 9p.
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7 . Academic Journal
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12
저자
by
Lossos, Alexander
;
Baala, Lekbir
;
Soffer, Dov
;
Averbuch-Heller, Lea
;
Dotan, Shlomo
, et al.
소스
Brain
. Jan 01, 2005 128(1):42-51
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7 . Academic Journal
Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28.
저자
by
Baala, Lekbir
;
Hadj-Rabia, Smaïl
;
Hamel-Teillac, Dominique
;
Hadchouel, Michelle
;
Prost, Catherine
, et al.
소스
Journal of Investigative Dermatology
. Jul2002, Vol. 119 Issue 1, p70-76. 7p.
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7 . Academic Journal
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
저자
by
Baala, Lekbir
;
Briault, Sylvain
;
Etchevers, Heather C
;
Laumonnier, Frédéric
;
Natiq, Abdelhafid
, et al.
소스
Nature Genetics
. Apr2007, Vol. 39 Issue 4, p454-456. 3p. 1 Color Photograph, 1 Diagram, 2 Graphs.
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