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Refinado por: Base de dados/Biblioteca: Wiley Online Library - AutoHoldings Journals remover
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1
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
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Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center

Kocabey, Mehmet ; Özkalaycı, Hande ; Çankaya, Tufan ; Yılmaz Uzman, Ceren ; Çağlayan, Ahmet Okay ; Ülgenalp, Ayfer ; Erçal, Murat Derya

International journal of developmental neuroscience, 2023-08, Vol.83 (5), p.456-465 [Periódico revisado por pares]

United States

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2
Epilepsy in Legius syndrome: Coincidence or causation?
Epilepsy in Legius syndrome: Coincidence or causation?
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Epilepsy in Legius syndrome: Coincidence or causation?

Medina Lemus, Adalbeis ; Boelman, Cyrus ; Myers, Kenneth A.

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63547-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Genetic analyses of mosaic neurofibromatosis type 1 with giant café‐au‐lait macule, plexiform neurofibroma and multiple melanocytic nevi
Genetic analyses of mosaic neurofibromatosis type 1 with giant café‐au‐lait macule, plexiform neurofibroma and multiple melanocytic nevi
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Genetic analyses of mosaic neurofibromatosis type 1 with giant café‐au‐lait macule, plexiform neurofibroma and multiple melanocytic nevi

Hida, Tokimasa ; Idogawa, Masashi ; Okura, Masae ; Sugita, Shintaro ; Sugawara, Taro ; Sasaki, Yasushi ; Tokino, Takashi ; Yamashita, Toshiharu ; Uhara, Hisashi

Journal of dermatology, 2020-06, Vol.47 (6), p.658-662 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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4
Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center
Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center
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Low rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center

Pagani, Kyla ; Plumptre, Isabella ; Amin, Shray ; Lal, Karan ; Wiss, Karen ; Belazarian, Leah

Pediatric dermatology, 2023-05, Vol.40 (3), p.446-451 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome
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Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome

Nakato, Daisuke ; Yamada, Mamiko ; Suzuki, Hisato ; Takenouchi, Toshiki ; Kosaki, Kenjiro

Congenital anomalies, 2023-03, Vol.63 (2), p.54-55 [Periódico revisado por pares]

Kyoto, Japan: John Wiley & Sons Australia, Ltd

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6
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
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Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Castellanos, Elisabeth ; Rosas, Inma ; Negro, Alex ; Gel, Bernat ; Alibés, Andreu ; Baena, Neus ; Pineda, Mercè ; Pi, Graciela ; Pintos, Guillem ; Salvador, Hector ; Lázaro, Conxi ; Blanco, Ignacio ; Vilageliu, Lluïsa ; Brems, Hilde ; Grinberg, Daniel ; Legius, Eric ; Serra, Eduard

Clinical genetics, 2020-02, Vol.97 (2), p.264-275 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Exotic animal cafes are increasingly home to threatened biodiversity
Exotic animal cafes are increasingly home to threatened biodiversity
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Exotic animal cafes are increasingly home to threatened biodiversity

McMillan, Sharne E. ; Dingle, Caroline ; Allcock, John A. ; Bonebrake, Timothy C.

Conservation letters, 2021-01, Vol.14 (1), p.n/a [Periódico revisado por pares]

Washington: John Wiley & Sons, Inc

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8
Novel use of non‐ablative fractional photothermolysis for café‐au‐lait macules in darker skin types
Novel use of non‐ablative fractional photothermolysis for café‐au‐lait macules in darker skin types
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Novel use of non‐ablative fractional photothermolysis for café‐au‐lait macules in darker skin types

Balaraman, Brundha ; Ravanfar‐Jordan, Parisa ; Friedman, Paul M.

Lasers in surgery and medicine, 2017-01, Vol.49 (1), p.84-87 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex
The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex
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The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex

Shapira Rootman, Mika ; Goldberg, Yael ; Cohen, Rony ; Kropach, Nesia ; Keidar, Inbal ; Friedland, Rivka ; Dotan, Gad ; Konen, Osnat ; Toledano, Helen

Clinical genetics, 2020-02, Vol.97 (2), p.296-304 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Familial gastrointestinal stromal tumors, lentigines, and café‐au‐lait macules associated with germline c‐kit mutation treated with imatinib
Familial gastrointestinal stromal tumors, lentigines, and café‐au‐lait macules associated with germline c‐kit mutation treated with imatinib
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Familial gastrointestinal stromal tumors, lentigines, and café‐au‐lait macules associated with germline c‐kit mutation treated with imatinib

Gupta, Divya ; Chandrashekar, Laxmisha ; Larizza, Lidia ; Colombo, Elisa A. ; Fontana, Laura ; Gervasini, Cristina ; Thappa, Devinder M. ; Rajappa, Medha ; Rajendiran, Kalai Selvi ; Sreenath, Gubbi Shamanna ; Kate, Vikram

International journal of dermatology, 2017-02, Vol.56 (2), p.195-201 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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