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1 . Academic Journal
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
저자
by
Sloboda, Natacha
;
Renard, Emeline
;
Lambert, Laetitia
;
Bonnet, Céline
;
Leheup, Bruno
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
저자
by
Lançon, Allan
;
Beaudouin, Amandine
;
Lambert, Laetitia
;
Baurand, Amandine
;
Petit, Estelle
, et al.
소스
In
European Journal of Medical Genetics
October 2023 66(10)
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia
저자
by
Ravel, Jean-Marie
;
Michaud, Maud
;
Frismand, Solène
;
Puisieux, Salomé
;
Banneau, Guillaume
, et al.
소스
In
Parkinsonism and Related Disorders
April 2023 109
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7 . Academic Journal
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
저자
by
Hamamie-Chaar, Angélique
;
Renaud, Mathilde
;
Gençpinar, Pinar
;
Bruel, Ange-Line
;
Philippe, Christophe
, et al.
소스
Journal of Neurology
. Sep2024, Vol. 271 Issue 9, p6343-6348. 6p.
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7 . Academic Journal
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
저자
by
Blanc, Albin
;
Bonnet, Céline
;
Wandzel, Marion
;
Roth, Virginie
;
Duffourd, Yannis
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-6, 6p
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7 . Academic Journal
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
저자
by
Bourchany, Aurélie
;
Thauvin-Robinet, Christel
;
Lehalle, Daphné
;
Bruel, Ange-Line
;
Masurel-Paulet, Alice
, et al.
소스
In
European Journal of Medical Genetics
November 2017 60(11):595-604
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7 . Periodical
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
저자
by
Racine, Caroline
;
Denommé-Pichon, Anne-Sophie
;
Engel, Camille
;
Tran Mau-them, Frederic
;
Bruel, Ange-Line
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 1 p36-46, 11p
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7 . Academic Journal
Série de 3 familles avec probable effet fondateur de la variation Arg338*AP4M1 (SPG50) responsable d’une déficience intellectuelle sévère, épilepsie et paraplégie spastique
저자
by
Clément, Guillemette
;
Becker, Aurélie
;
Felici, Charlotte
;
Lambert, Laëtitia
;
De Saint Martin, Anne
, et al.
소스
In
Revue Neurologique
April 2024 180 Supplement:S71-S72
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7 . Academic Journal
Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.
저자
by
Willekens, Jeremy
;
Mosca, Pauline
;
Burt‐Oberecken, Nathan
;
Laugeais, Edgar
;
Kaoma, Tony
, et al.
소스
Molecular Nutrition & Food Research; Nov2023, Vol. 67 Issue 21, p1-11, 11p
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