Search Results - "Goldenberg, Alice"

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

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Stochastic Block Models for Complex Network Analysis: A Survey.

Authors: Liu, Xueyan Song, Wenzhuo Musial, Katarzyna et al.

Source: ACM Transactions on Knowledge Discovery from Data; Apr2025, Vol. 19 Issue 3, p1-35, 35p

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Authors: Jedraszak, Guillaume Jobic, Florence Receveur, Aline et al.

Source: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-7, 7p

Growth charts in DYRK1A syndrome.

Authors: Lanvin, Pierre‐Louis Goronflot, Thomas Isidor, Bertrand et al.

Source: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p9-16, 8p

Asymmetric Learning for Graph Neural Network based Link Prediction.

Authors: Yao, Kai-Lang Li, Wu-Jun

Source: ACM Transactions on Knowledge Discovery from Data; Jun2024, Vol. 18 Issue 5, p1-18, 18p

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Authors: Deshwar, Ashish R Cytrynbaum, Cheryl Murthy, Harsha et al.

Source: Brain: A Journal of Neurology; Jun2023, Vol. 146 Issue 6, p2285-2297, 13p

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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Authors: Goldenberg, Alice Marguet, Florent Gilard, Vianney et al.

Source: Acta Neuropathologica Communications. 12/3/2019, Vol. 7 Issue 1, pN.PAG-N.PAG. 1p.

Cholestatic Liver Injury in a Patient with Tertiary Syphilis.

Authors: Mujumdar, Sahaj Goldenberg, Jason Bieser, Steven et al.

Source: Case Reports in Gastroenterology. 2022, Vol. 16 Issue 3, p552-556. 5p.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Authors: Lehalle, Daphné Bruel, Ange‐Line Vitobello, Antonio et al.

Source: American Journal of Medical Genetics. Part A; Jul2022, Vol. 188 Issue 7, p2036-2047, 12p

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

Authors: Blanluet, Maud Chantot‐Bastaraud, Sandra Chambon, Pascal et al.

Source: American Journal of Medical Genetics. Part A; Oct2021, Vol. 185 Issue 10, p3057-3061, 5p

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Authors: Chilton, Ilana Okur, Volkan Vitiello, Giuseppina et al.

Source: American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p962-973, 12p

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.

Authors: Lecoquierre, François Bonnevalle, Antoine Chadie, Alexandra et al.

Source: American Journal of Medical Genetics. Part A; Nov2019, Vol. 179 Issue 11, p2257-2262, 6p

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Nephrotic syndrome and mitochondrial disorders: Questions.

Authors: Bernardor, Julie Faudeux, Camille Chaussenot, Anabelle et al.

Source: Pediatric Nephrology. Aug2019, Vol. 34 Issue 8, p1373-1374. 2p.

Nephrotic syndrome and mitochondrial disorders: answers.

Authors: Bernardor, Julie Faudeux, Camille Chaussenot, Anabelle et al.

Source: Pediatric Nephrology. Aug2019, Vol. 34 Issue 8, p1375-1377. 3p.

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations.

Authors: Snanoudj, Sarah Molin, Arnaud Colson, Cindy et al.

Source: Journal of Bone & Mineral Research. May2020, Vol. 35 Issue 5, p913-919.